ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828083102
Gene: HGSNAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350158.1:p.Ser230Phe
CA114873
NM_001363229.2:c.689C>T