Canonical Allele Identifier: PA3051389260
Gene: ASPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000040.1:p.Asp249Glu
CA397687196
NM_000049.4:c.747T>A
CA397687198
NM_000049.4:c.747T>G