ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829690854
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54506
ClinVar RCV Id:
RCV000111801
RCV000214807
RCV000486164
RCV000767205
RCV001299384
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser694Cys
CA001490
NM_007297.4:c.2081C>G