ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA195183
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000166178
RCV000697218
RCV000989902
RCV001358638
ClinVar Variation:
186563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser592Asn
CA001156
NM_007294.4:c.1775G>A