Canonical Allele Identifier: PA2741915439
Gene: SMS HGNC NCBI

Linked Data

ClinVar Variation Id: 2576954
ClinVar RCV Id: RCV003323259

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004586.2:p.Lys245Asn
CA327512569
NM_004595.5:c.735A>T
CA412569137
NM_004595.5:c.735A>C