ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573057362
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
382284
ClinVar RCV Id:
RCV000431436
RCV001861518
RCV002429388
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Glu747Lys
CA16607460
NM_000059.4:c.2239G>A