ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828083014
Gene: HGSNAT
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1021697
ClinVar RCV Id:
RCV001321499
RCV001835614
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350158.1:p.Tyr131His
CA371119542
NM_001363229.2:c.391T>C