Canonical Allele Identifier: PA246548
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 198058
ClinVar RCV Id: RCV000179273 RCV001376860
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Arg245Leu
CA246547
NM_000199.5:c.734G>T