Allele Registry

Canonical Allele Identifier: PA2825382027

Gene: ALAS2 HGNC NCBI

ClinVar RCV:

RCV000011231

RCV000254885

ClinVar Variation:

10485

HGVS (amino-acid)	Matching Registered Transcripts
NP_001033057.1:p.Arg439Cys	CA121098 NM_001037968.4:c.1315C>T