ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059510
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
419653
ClinVar RCV Id:
RCV000486670
RCV000773057
RCV001050810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser497Leu
CA16619659
NM_000059.4:c.1490C>T