ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580334414
Gene: SMO
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005622.1:p.Val129Ile
CA4479085
NM_005631.5:c.385G>A