ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2580107849
Gene: NAGLU
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2169595
ClinVar RCV Id:
RCV003084911
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000254.2:p.Leu327Phe
CA8576907
NM_000263.4:c.979C>T