ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829706093
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV004519391
ClinVar Variation:
3226156
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Glu1511Lys
CA10592596
NM_007300.4:c.4531G>A