ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916035617
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
381685
ClinVar RCV Id:
RCV000439024
RCV000984216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339851.1:p.Ala44Thr
CA16607870
NM_001352922.2:c.130G>A