Allele Registry

Canonical Allele Identifier: PA163026

Gene: SMO HGNC NCBI

ClinVar RCV:

RCV000122437

RCV000514158

RCV003993813

ClinVar Variation:

135575

HGVS (amino-acid)	Matching Registered Transcripts
NP_005622.1:p.Pro647Ser	CA163025 NM_005631.5:c.1939C>T