ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059475
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
584513
ClinVar RCV Id:
RCV000708686
RCV001050996
RCV001759425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser2994Leu
CA387757408
NM_000059.4:c.8981C>T