Canonical Allele Identifier: PA091361
Gene: ALAS2 HGNC NCBI
ClinVar RCV:
RCV000011230
ClinVar Variation:
10484
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000023.2:p.Tyr199His
CA121097
NM_000032.5:c.595T>C