ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060307
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214298
RCV000558925
RCV000779957
ClinVar Variation:
231930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val2174Ala
CA10579699
NM_000059.4:c.6521T>C