ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828065275
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3078
ClinVar RCV Id:
RCV000003224
RCV000492011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Ser211Tyr
CA115987
NM_001362782.2:c.632C>A