ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827194081
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Ile231Thr
CA8234741
NM_001323543.2:c.692T>C