ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825288743
Gene: SMPD1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
195253
ClinVar RCV:
RCV000179323
RCV000259165
RCV001084948
RCV001107857
ClinVar Variation:
198092
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001007594.2:p.Pro532Leu
CA246587
NM_001007593.3:c.1595C>T