ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828082228
Gene: HGSNAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Thr417Ile
CA4736811
NM_001363227.2:c.1250C>T