ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825288795
Gene: SMPD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2982
ClinVar RCV Id:
RCV000003116
RCV001248875
RCV001851600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Gly578Ser
CA252509
NM_001007593.3:c.1732G>A