ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828081811
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
363136
ClinVar RCV Id:
RCV000370676
RCV000907228
RCV003889869
RCV004022074
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Arg6Lys
CA10631204
NM_001363227.2:c.17G>A