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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA10641618
Gene: ACTC1
HGNC
NCBI
GJD2-DT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
315671
ClinVar RCV Id:
RCV000266860
RCV000297313
RCV000324064
RCV000354614
RCV000357827
dbSNP Id:
rs766542832
MyVariant Identifiers:
chr15:g.35081678C>A (hg19)
chr15:g.34789477C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.34789477C>A , CM000677.2:g.34789477C>A
GRCh38
NC_000015.9:g.35081678C>A , CM000677.1:g.35081678C>A
GRCh37
NC_000015.8:g.32868970C>A
NCBI36
NG_007553.1:g.11250G>T , LRG_388:g.11250G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000290378.4:c.*935G>T
(ACTC1)
ENSP00000290378.4:n.*935G>T
NM_005159.4:c.*935G>T , LRG_388t1:c.*935G>T
(ACTC1)
NP_005150.1:n.*935G>T
NR_120329.1:n.299+12046C>A
(GJD2-DT)
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