ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827689938
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2202686
ClinVar RCV Id:
RCV002630044
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Asn42del
CA8818165
NM_001352921.3:c.125_127del