Canonical Allele Identifier: PA1139736437
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 967170
ClinVar RCV Id: RCV001242006
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001339851.1:p.Asn41Lys
CA401364609
NM_001352922.2:c.123C>A
CA401364611
NM_001352922.2:c.123C>G