ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825519943
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
807542
ClinVar RCV Id:
RCV000995698
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Ala140Asp
CA412176905
NM_001085428.3:c.419C>A