ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2828065543
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2173390
ClinVar RCV Id:
RCV002581888
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001349711.1:p.Arg412Cys
CA325531157
NM_001362782.2:c.1234C>T