Canonical Allele Identifier: PA2825381793
Gene: ALAS2 HGNC NCBI
ClinVar RCV:
RCV000011230
ClinVar Variation:
10484
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001033056.1:p.Tyr162His
CA121097
NM_001037967.4:c.484T>C