ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827194173
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
522756
ClinVar RCV Id:
RCV000625916
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Cys316Tyr
CA286432122
NM_001323543.2:c.947G>A