Canonical Allele Identifier: PA2828082878
Gene: HGSNAT HGNC NCBI

Linked Data

ClinVar Variation Id: 2081403
ClinVar RCV Id: RCV002994260
ClinVar Variation Id: 2519908
ClinVar RCV Id: RCV003284503
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001350157.1:p.Val520Ile
CA4737019
NM_001363228.2:c.1558G>A
CA2580078321
NM_001363228.2:c.1557_1558delinsCA