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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:
CA2702203233
Gene:
Linked Data
dbSNP Id:
rs2125267760
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.21207169T>C , CM000665.2:g.21207169T>C
GRCh38
NC_000003.11:g.21248661T>C , CM000665.1:g.21248661T>C
GRCh37
NC_000003.10:g.21223665T>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
XR_940646.1:n.254-3829T>C
XR_940646.2:n.547-3829T>C
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Search 100 bp 3'