ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829691421
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54601
ClinVar RCV Id:
RCV000111889
RCV001015939
RCV001350271
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala807Val
CA001688
NM_007297.4:c.2420C>T