ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056485
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
491214
ClinVar RCV Id:
RCV000584011
RCV001853909
RCV002248797
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Asp685Val
CA387768987
NM_000059.4:c.2054A>T