ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828082232
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
975713
ClinVar RCV Id:
RCV001252519
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Leu420Phe
CA371119551
NM_001363227.2:c.1258C>T