ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059412
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462382
ClinVar RCV Id:
RCV000551329
RCV002350226
RCV002268146
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser1832Pro
CA387785769
NM_000059.4:c.5494T>C