ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499249026
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1048306
ClinVar RCV Id:
RCV001578406
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Ser79Thr
CA397076669
NM_001323543.2:c.236G>C