Canonical Allele Identifier: PA2830032524
Gene: AAGAB HGNC NCBI
ClinVar RCV:
RCV000880150
ClinVar Variation:
708822
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_078942.3:p.Met110Lys
CA7627163
NM_024666.5:c.329T>A