ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645390384
Gene: HGSNAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689632.2:p.Pro413Ser
CA4736810
NM_152419.3:c.1237C>T