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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:
PA1139668948
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
844117
ClinVar RCV Id:
RCV001046886
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Gly173Ser
CA387757774
NM_000059.4:c.517G>A