ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056270
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
489793
ClinVar RCV Id:
RCV000580285
RCV000810854
RCV004001247
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Arg2991Cys
CA6941325
NM_000059.4:c.8971C>T