ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573055960
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51106
ClinVar RCV Id:
RCV000112910
RCV000130010
RCV000587298
RCV001175372
RCV001495330
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Arg448His
CA011692
NM_000059.4:c.1343G>A