ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827194024
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
884853
ClinVar RCV Id:
RCV001116143
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Pro185Ser
CA8234824
NM_001323543.2:c.553C>T