ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829693436
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
531245
ClinVar RCV Id:
RCV000637412
RCV003157752
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Lys1217Arg
CA10594389
NM_007297.4:c.3650A>G