ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097740
Gene: GALNS
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000503.1:p.Arg90Trp
NM_000512.5:c.268C>T