ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057712
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51122
ClinVar RCV Id:
RCV000112921
RCV000569851
RCV001338564
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.His473Leu
CA011980
NM_000059.4:c.1418A>T