ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059377
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
52500
ClinVar RCV Id:
RCV000113869
RCV000509622
RCV001371246
RCV001703948
RCV002307383
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser2695Leu
CA025444
NM_000059.4:c.8084C>T