ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829706400
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55242
ClinVar RCV Id:
RCV000048609
RCV000112366
RCV000129407
RCV001703953
RCV001778692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ser438Cys
CA002933
NM_007298.3:c.1313C>G