ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043675
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
427177
ClinVar RCV Id:
RCV000489607
RCV001359580
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Thr574Lys
CA4736988
NM_001363227.2:c.1721C>A