ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645449995
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000479949
RCV000571167
RCV001212358
RCV001770373
ClinVar Variation:
421966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ile1058Val
CA10595644
NM_007294.4:c.3172A>G