ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2741811865
Gene: SHH
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000184.1:p.Leu233Arg
CA370146388
NM_000193.4:c.698T>G