ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827193902
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1048428
ClinVar RCV Id:
RCV001578530
RCV002271645
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Gly105Ser
CA286402456
NM_001323543.2:c.313G>A