ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139672967
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51417
ClinVar RCV Id:
RCV000113142
RCV000709307
RCV003156758
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys1057Arg
CA017433
NM_000059.4:c.3170A>G