Canonical Allele Identifier: PA2825028948
Gene: ASPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000040.1:p.Ile143Phe
CA8288916
NM_000049.4:c.427A>T
CA3273084255
NM_000049.4:c.427_429delinsTTC