ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916022264
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288073
ClinVar RCV Id:
RCV000292122
RCV001004584
RCV001249051
RCV001218398
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305017.1:p.Tyr62Cys
CA10605962
NM_001318088.2:c.185A>G