ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3073461675
Gene: SMO
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005622.1:p.Arg562Leu
CA369247664
NM_005631.5:c.1685G>T