ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093471
Gene: SI
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000001478
ClinVar Variation:
1413
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001032.2:p.Leu341Pro
CA115000
NM_001041.4:c.1022T>C