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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:
CA634267031
Gene: PDYN-AS1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1269502978
gnomAD v2:
20-1976681-CAG-C
gnomAD v3:
20-1996035-CAG-C
gnomAD v4:
20-1996035-CAG-C
MyVariant Identifiers:
chr20:g.1976682_1976683del (hg19)
chr20:g.1996036_1996037del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.1996037_1996038del , CM000682.2:g.1996037_1996038del
GRCh38
NC_000020.10:g.1976683_1976684del , CM000682.1:g.1976683_1976684del
GRCh37
NC_000020.9:g.1924683_1924684del
NCBI36
NG_028027.1:g.3209_3210del
Transcript Alleles
HGVS
Amino-acid Change
XR_244229.1:n.1217-10895_1217-10894del
NR_134520.1:n.1253-10895_1253-10894del
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