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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
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Canonical Allele Identifier:
CA655827004
Gene: ACTC1
HGNC
NCBI
GJD2-DT
HGNC
NCBI
Linked Data
COSMIC:
COSN19462414
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.34789507_34789508insG , CM000677.2:g.34789507_34789508insG
GRCh38
NC_000015.9:g.35081708_35081709insG , CM000677.1:g.35081708_35081709insG
GRCh37
NC_000015.8:g.32869000_32869001insG
NCBI36
NG_007553.1:g.11219_11220insC , LRG_388:g.11219_11220insC
Transcript Alleles
HGVS
Amino-acid change
ENST00000290378.4:c.*904_*905insC
(ACTC1)
ENSP00000290378.4:n.*904_*905insC
NM_005159.4:c.*904_*905insC , LRG_388t1:c.*904_*905insC
(ACTC1)
NP_005150.1:n.*904_*905insC
NR_120329.1:n.299+12076_299+12077insG
(GJD2-DT)
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