ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139678850
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
947329
ClinVar RCV Id:
RCV001218388
RCV001751413
RCV002365988
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr2125Asn
CA6940946
NM_000059.4:c.6374C>A