ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA267946
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000111889
RCV001015939
RCV001350271
ClinVar Variation:
54601
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala854Val
CA001688
NM_007294.4:c.2561C>T