ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA221145
Gene: SMPD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
99220
ClinVar RCV:
RCV000178118
RCV000984310
RCV000984311
ClinVar Variation:
93313
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Cys433Trp
CA221144
NM_000543.5:c.1299T>G