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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:
PA2825008905
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1757475
ClinVar RCV Id:
RCV002378394
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser239Ile
CA387759974
NM_000059.4:c.716G>T