Canonical Allele Identifier: PA2499229594
Gene: SGSH HGNC NCBI

Linked Data

ClinVar Variation Id: 1002227
ClinVar RCV Id: RCV001298622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000190.1:p.Asn391_Phe392del
CA2277862340
NM_000199.5:c.1173_1178del