ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268105
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048242
RCV000112127
RCV000509865
RCV000779887
RCV001092620
RCV004554662
ClinVar Variation:
54926
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1196Ile
CA002289
NM_007294.4:c.3587C>T