ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825288496
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
992693
ClinVar RCV Id:
RCV001281409
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Gly318Ser
CA379371363
NM_001007593.3:c.952G>A