Canonical Allele Identifier: PA2825288523
Gene: SMPD1 HGNC NCBI
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001007594.2:p.Arg340Cys
CA5852733
NM_001007593.3:c.1018C>T