ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499227499
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1044374
ClinVar RCV Id:
RCV001348610
RCV002341727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Thr1647Ile
CA387783711
NM_000059.4:c.4940C>T