ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915970678
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
68150
ClinVar RCV Id:
RCV000058981
RCV002247460
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078896.2:p.Ser252Tyr
CA219056
NM_001085427.3:c.755C>A