ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139714094
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
951768
ClinVar RCV Id:
RCV001223752
RCV001283903
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Lys385Ile
CA10592599
NM_007299.4:c.1154A>T