ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827193890
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1048423
ClinVar RCV Id:
RCV001578525
RCV001685351
RCV003388001
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Phe100del
CA8234958
NM_001323543.2:c.298_300del