ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645384542
Gene: SMO
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000431122
RCV000441195
ClinVar Variation:
375938
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005622.1:p.Asp473His
CA16602418
NM_005631.5:c.1417G>C