ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA115992
Gene: ARSA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3081
ClinVar RCV Id:
RCV000003227
RCV000078933
RCV000723522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000478.3:p.Arg372Trp
CA115991
NM_000487.5:c.1114C>T