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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:
CA528157039
Gene:
Linked Data
dbSNP Id:
rs1436966169
rs2100275666
gnomAD v2:
1-203157037-C-CT
gnomAD v3:
1-203187909-C-CT
gnomAD v4:
1-203187909-C-CT
MyVariant Identifiers:
chr1:g.203157037_203157038insT (hg19)
chr1:g.203187909_203187910insT (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.203187912dup , CM000663.2:g.203187912dup
GRCh38
NC_000001.10:g.203157040dup , CM000663.1:g.203157040dup
GRCh37
NC_000001.9:g.201423663dup
NCBI36
NG_013056.1:g.3885dup
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