ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829686865
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000203904
RCV001077807
RCV001180532
RCV002500651
ClinVar Variation:
220258
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Asp49Gly
CA348195
NM_007297.4:c.146A>G