ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825520018
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1514967
ClinVar RCV Id:
RCV002029692
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078897.1:p.Thr190Ser
CA10324916
NM_001085428.3:c.568A>T