ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573199963
Gene: GALNS
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002227893
ClinVar Variation:
1679877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001310472.1:p.Ser79Asn
CA397076672
NM_001323543.2:c.236G>A