ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059530
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51163
ClinVar RCV Id:
RCV000043850
RCV000112946
RCV002399403
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser547Leu
CA012716
NM_000059.4:c.1640C>T