ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573164433
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1412033
ClinVar RCV Id:
RCV001923043
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000190.1:p.Arg435His
CA8817618
NM_000199.5:c.1304G>A