Canonical Allele Identifier: PA915970658
Gene: ARSA HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.Pro220Leu
CA10324952
NM_001085427.3:c.659C>T