ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829690312
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
462572
ClinVar RCV Id:
RCV000547574
RCV003157690
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ile603Thr
CA10598124
NM_007297.4:c.1808T>C