ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825519003
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2081393
ClinVar RCV Id:
RCV002994252
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078895.2:p.Pro220Thr
CA10324953
NM_001085426.3:c.658C>A