ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA238624
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
193115
ClinVar RCV Id:
RCV000173158
RCV001242007
RCV003258676
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Leu35Val
CA238623
NM_000543.5:c.103C>G