ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645457498
Gene: SHH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000184.1:p.Cys198Arg
CA370146729
NM_000193.4:c.592T>C