ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573055651
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51978
ClinVar RCV Id:
RCV000113513
RCV000414292
RCV001857368
RCV003157308
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ala1991Val
CA023438
NM_000059.4:c.5972C>T