Allele Registry

Canonical Allele Identifier: PA121084

Gene: ALAS2 HGNC NCBI

ClinVar RCV:

RCV000011219

RCV001729346

ClinVar Variation:

10473

HGVS (amino-acid)	Matching Registered Transcripts
NP_000023.2:p.Ala172Thr	CA121083 NM_000032.5:c.514G>A