ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2741812075
Gene: IDS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2845955
ClinVar RCV Id:
RCV003623144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000193.1:p.Thr500Ala
CA414517959
NM_000202.8:c.1498A>G