ClinGen Allele Registry
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Canonical Allele Identifier:
PA645450149
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000220075
RCV000474129
RCV000484803
RCV000663155
ClinVar Variation:
233080
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1134Val
CA057907
NM_007294.4:c.3401A>T