ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997260
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000215317
RCV000822190
RCV003998547
ClinVar Variation:
233327
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ser643Ile
CA10580643
NM_007300.4:c.1928G>T