ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139758406
Gene: HGSNAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Arg239Cys
CA4736594
NM_152419.3:c.715C>T