ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA165294
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000031129
RCV000129886
RCV000709473
ClinVar Variation:
37548
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1261Ser
CA002436
NM_007294.4:c.3782T>C