ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139681693
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
91500
ClinVar RCV Id:
RCV000077017
RCV001027143
RCV001314689
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ile2693Lys
CA025441
NM_000059.4:c.8078T>A