Allele Registry

Canonical Allele Identifier: PA323963

Gene: ALAS2 HGNC NCBI

ClinVar Allele:

49400

ClinVar RCV:

RCV000033870

RCV000199418

RCV000990842

ClinVar Variation:

40978

HGVS (amino-acid)	Matching Registered Transcripts
NP_000023.2:p.Tyr586Phe	CA323962 NM_000032.5:c.1757A>T