ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828083065
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
265483
ClinVar RCV Id:
RCV000255417
RCV000587936
RCV000665568
RCV000763185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350158.1:p.Glu183Lys
CA4736872
NM_001363229.2:c.547G>A