Canonical Allele Identifier: PA2825519823
Gene: ARSA HGNC NCBI

Linked Data

ClinVar Variation Id: 68134
ClinVar RCV Id: RCV000058965 RCV000631449
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001078897.1:p.Pro64Leu
CA219024
NM_001085428.3:c.191C>T
CA645612061
NM_001085428.3:c.190_191delinsTT