ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828082912
Gene: HGSNAT
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350157.1:p.Val550Ile
CA180116
NM_001363228.2:c.1648G>A