ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059517
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
224459
ClinVar RCV Id:
RCV000240730
RCV000486878
RCV001193362
RCV002390563
RCV003644931
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser504Cys
CA10575909
NM_000059.4:c.1511C>G