Canonical Allele Identifier: PA3051389349
Gene: ASPA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000040.1:p.Lys253Asn
CA397687275
NM_000049.4:c.759A>C
CA397687276
NM_000049.4:c.759A>T