Canonical Allele Identifier: PA2828065146
Gene: ARSA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001349711.1:p.Met125Ile
CA10324961
NM_001362782.2:c.375G>A
CA412177199
NM_001362782.2:c.375G>T
CA412177201
NM_001362782.2:c.375G>C