Canonical Allele Identifier: PA2825028840
Gene: ASPA HGNC NCBI
ClinVar RCV:
RCV002046315
ClinVar Variation:
1521499
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000040.1:p.Asn54His
CA8288855
NM_000049.4:c.160A>C