ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825204624
Gene: GALNS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1693686
ClinVar RCV Id:
RCV002261555
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000503.1:p.Val277Ile
CA397076269
NM_000512.5:c.829G>A