ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059639
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
479318
ClinVar RCV Id:
RCV000568247
RCV000699985
RCV001824830
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser2216Ala
CA247514266
NM_000059.4:c.6646T>G