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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:
PA2573160310
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1351993
ClinVar RCV Id:
RCV002047264
RCV002256849
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val783Ile
CA387771616
NM_000059.4:c.2347G>A