ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3083112173
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Thr469Ile
CA8234673
NM_000512.5:c.1406C>T