ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825288537
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
203427
ClinVar RCV Id:
RCV000192224
RCV001380608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Ala358Asp
CA347291
NM_001007593.3:c.1073C>A