ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580196612
Gene: SHH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001297391.1:p.Lys18Gln
CA370149431
NM_001310462.2:c.52A>C