Allele Registry

Canonical Allele Identifier: PA091346

Gene: ALAS2 HGNC NCBI

ClinVar RCV:

RCV000011231

RCV000254885

ClinVar Variation:

10485

HGVS (amino-acid)	Matching Registered Transcripts
NP_000023.2:p.Arg452Cys	CA121098 NM_000032.5:c.1354C>T