ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916043685
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
420117
ClinVar RCV Id:
RCV000478941
RCV000625332
RCV000802522
RCV001252520
RCV002271509
RCV002526563
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350156.1:p.Tyr656Cys
CA4737042
NM_001363227.2:c.1967A>G