ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827690234
Gene: SGSH
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000625930
ClinVar Variation:
522769
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339850.1:p.Thr271Met
CA401359955
NM_001352921.3:c.812C>T