ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645450020
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000222863
RCV000543033
ClinVar Variation:
230930
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg1076Ile
CA10580574
NM_007294.4:c.3227G>T