ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828169415
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
242451
ClinVar RCV Id:
RCV001004367
RCV001384265
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001352064.1:p.Tyr404Cys
CA5852881
NM_001365135.1:c.1211A>G