ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829687745
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000583425
RCV001370800
ClinVar Variation:
491193
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr246Ile
CA10600319
NM_007297.4:c.737C>T