ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198685
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
188416
ClinVar RCV Id:
RCV000774935
RCV001072157
RCV001337422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1681Ile
CA003169
NM_007294.4:c.5042C>T