Canonical Allele Identifier: PA121076
Gene: ALAS2 HGNC NCBI
ClinVar Allele:
25507
ClinVar RCV:
RCV000011214
ClinVar Variation:
10468
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001033057.1:p.Ile463Asn
CA121074
NM_001037968.4:c.1388T>A