ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829717675
Gene: BRCA1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
152369
ClinVar RCV:
RCV000132000
RCV000227715
RCV003998125
ClinVar Variation:
142655
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser127Ile
CA002456
NM_007300.4:c.380G>T