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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:
CA1427077011
Gene:
Linked Data
dbSNP Id:
rs1719906115
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186715173G>A , CM000665.2:g.186715173G>A
GRCh38
NC_000003.11:g.186432962G>A , CM000665.1:g.186432962G>A
GRCh37
NC_000003.10:g.187915656G>A
NCBI36
NG_016009.1:g.2865G>A
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