ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827194081
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
321191
ClinVar RCV Id:
RCV000331371
RCV000894656
RCV003235192
RCV003480600
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Ile231Thr
CA8234741
NM_001323543.2:c.692T>C