ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059636
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51270
ClinVar RCV Id:
RCV000113032
RCV001349389
RCV003156747
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser775Phe
CA014938
NM_000059.4:c.2324C>T