ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827193898
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1412223
ClinVar RCV Id:
RCV001943148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Asn104His
CA397076052
NM_001323543.2:c.310A>C