ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825520320
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1964710
ClinVar RCV Id:
RCV002721566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Arg412Ser
CA412166875
NM_001085428.3:c.1234C>A