ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825518452
Gene: ARSA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
79058
ClinVar RCV:
RCV000058999
RCV000665708
ClinVar Variation:
68167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001078894.2:p.Ala316Thr
CA219090
NM_001085425.3:c.946G>A