Canonical Allele Identifier: PA357225
Gene: ASL HGNC NCBI
ClinVar RCV:
RCV000210669
ClinVar Variation:
224974
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000039.2:p.Lys192_Arg193dup
CA357224
NM_000048.4:c.575_580dup