Canonical Allele Identifier: PA252361
Gene: ASPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001121557.1:p.Tyr231Cys
CA252360
NM_001128085.1:c.692A>G
CA3273078240
NM_001128085.1:c.692_693delinsGT