ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA198681
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54922
ClinVar RCV Id:
RCV000112122
RCV000223601
RCV001367738
RCV002265584
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Thr1194Ile
CA002281
NM_007294.4:c.3581C>T