Canonical Allele Identifier: PA2828065317
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_001349711.1:p.Glu228Asp
CA219088
NM_001362782.2:c.684G>T
CA412174472
NM_001362782.2:c.684G>C