ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829721972
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV003531141
ClinVar Variation:
2748795
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1250Gly
CA10594473
NM_007300.4:c.3749A>G