ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA100348
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1572
ClinVar RCV Id:
RCV000001638
RCV001203422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Arg234Cys
CA115055
NM_000263.4:c.700C>T