ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139674593
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
934294
ClinVar RCV Id:
RCV001202653
RCV003158455
RCV004010622
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser1442Leu
CA387780833
NM_000059.4:c.4325C>T