ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827194299
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198427
ClinVar RCV Id:
RCV000179765
RCV000310050
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310473.1:p.Arg228Gln
CA247068
NM_001323544.2:c.683G>A