ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139670470
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51131
ClinVar RCV Id:
RCV000043814
RCV000130135
RCV000414054
RCV000989001
RCV001284410
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ala495Thr
CA012191
NM_000059.4:c.1483G>A