ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828065136
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
996131
ClinVar RCV Id:
RCV001290420
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Tyr117His
CA412177333
NM_001362782.2:c.349T>C