ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573058986
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000637475
RCV003157759
ClinVar Variation:
531279
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser1630Leu
CA387783518
NM_000059.4:c.4889C>T