Canonical Allele Identifier: PA3051389319
Gene: ASPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000040.1:p.Trp252Cys
CA397687253
NM_000049.4:c.756G>C
CA397687256
NM_000049.4:c.756G>T