ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060204
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
441462
ClinVar RCV Id:
RCV000509708
RCV000770712
RCV001323480
RCV004525952
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val494Met
CA387764420
NM_000059.4:c.1480G>A