Canonical Allele Identifier: PA2825382058
Gene: ALAS2 HGNC NCBI
ClinVar RCV:
RCV000011227
ClinVar Variation:
10481
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001033057.1:p.His511Asp
CA121095
NM_001037968.4:c.1531C>G