ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828082052
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
167177
ClinVar RCV Id:
RCV000153362
RCV000670920
RCV001243388
RCV001815238
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Pro237Gln
CA180114
NM_001363227.2:c.710C>A