Allele Registry

Canonical Allele Identifier: PA645472619

Gene: ALAS2 HGNC NCBI

ClinVar RCV:

RCV000359551

RCV003565417

ClinVar Variation:

368599

HGVS (amino-acid)	Matching Registered Transcripts
NP_000023.2:p.Arg218Cys	CA10428396 NM_000032.5:c.652C>T