ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196484
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000030983
RCV000047432
RCV000166686
RCV000585902
ClinVar Variation:
37402
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys45Thr
CA000890
NM_007294.4:c.134A>C