ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA114872
Gene: HGSNAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_689632.2:p.Arg344Cys
NM_152419.3:c.1030C>T