ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA162187
Gene: SMO
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
139009
ClinVar RCV:
RCV000122084
ClinVar Variation:
135270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005622.1:p.Asp473Asn
CA162186
NM_005631.5:c.1417G>A