ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645503925
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432163
ClinVar RCV Id:
RCV000498689
RCV000665319
RCV001851371
RCV004555866
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000534.3:p.Gly426Ser
CA379374228
NM_000543.5:c.1276G>A