ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA1139742707
Gene: SMPD1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Asp212His
CA379370470
NM_001365135.1:c.634G>C