ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139729629
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
923908
ClinVar RCV Id:
RCV001184933
RCV004008496
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gly484Glu
CA10599139
NM_007300.4:c.1451G>A