Canonical Allele Identifier: PA2830369020
Gene: ASAH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2141244
ClinVar RCV Id: RCV003056858

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_808592.2:p.Phe251Leu
CA370429342
NM_177924.5:c.753C>G
CA370429343
NM_177924.5:c.753C>A
CA370429349
NM_177924.5:c.751T>C