ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829708859
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55441
ClinVar RCV Id:
RCV000048839
RCV000077606
RCV000214443
RCV000236284
RCV001354040
RCV002490620
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser1743Phe
CA003318
NM_007300.4:c.5228C>T