ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825518349
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3091
ClinVar RCV Id:
RCV000003237
RCV000364541
RCV000169048
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Glu255Lys
CA116007
NM_001085425.3:c.763G>A