Canonical Allele Identifier: PA2825518946
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 2080901
ClinVar RCV Id: RCV003002281
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078895.2:p.Asn186Lys
CA412177544
NM_001085426.3:c.558C>G
CA412177546
NM_001085426.3:c.558C>A