ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825518233
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
431086
ClinVar RCV Id:
RCV000496198
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Pro182Arg
CA412177603
NM_001085425.3:c.545C>G