ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827690194
Gene: SGSH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2064175
ClinVar RCV Id:
RCV002943266
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Thr241Ala
CA401361232
NM_001352921.3:c.721A>G