ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043690
Gene: HGSNAT
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_001350158.1:p.Arg56Cys
NM_001363229.2:c.166C>T