ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059638
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479382
ClinVar RCV Id:
RCV000570200
RCV004000835
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser2216Cys
CA387790379
NM_000059.4:c.6647C>G