ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA196883
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000166853
RCV001076448
RCV002516510
ClinVar Variation:
187156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Tyr1716Ser
CA003270
NM_007294.4:c.5147A>C