ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826978972
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3166640
ClinVar RCV Id:
RCV004462024
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Ile58Thr
CA379372685
NM_001318088.2:c.173T>C