Allele Registry

Canonical Allele Identifier: PA2825381866

Gene: ALAS2 HGNC NCBI

ClinVar RCV:

RCV000011231

RCV000254885

ClinVar Variation:

10485

HGVS (amino-acid)	Matching Registered Transcripts
NP_001033056.1:p.Arg415Cys	CA121098 NM_001037967.4:c.1243C>T