ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829687419
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55682
ClinVar RCV Id:
RCV000049112
RCV000112778
RCV000129392
RCV000766561
RCV001201209
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp198Val
CA003841
NM_007297.4:c.593A>T