Canonical Allele Identifier: PA2825381779
Gene: ALAS2 HGNC NCBI
ClinVar RCV:
RCV000011225
ClinVar Variation:
10479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001033056.1:p.Asp122Asn
CA121093
NM_001037967.4:c.364G>A