ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057911
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51494
ClinVar RCV Id:
RCV000113198
RCV002453350
RCV003644869
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu1208Ile
CA018418
NM_000059.4:c.3622T>A