Canonical Allele Identifier: PA915970764
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68166
ClinVar RCV Id: RCV000058998 RCV001004415
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078896.2:p.Glu314Asp
CA219088
NM_001085427.3:c.942G>T
CA412174472
NM_001085427.3:c.942G>C