ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139681313
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001290194
ClinVar Variation:
995948
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys2630Gln
CA387747122
NM_000059.4:c.7888A>C