ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139710053
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
948029
ClinVar RCV Id:
RCV001219204
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu90Ile
CA10601326
NM_007297.4:c.268C>A