ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828083192
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1986467
ClinVar RCV Id:
RCV002786213
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350158.1:p.Ile325Met
CA371121586
NM_001363229.2:c.975C>G