Canonical Allele Identifier: PA104828
Gene: SHH HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000184.1:p.Trp117Arg
CA340832
NM_000193.4:c.349T>C
CA370149349
NM_000193.4:c.349T>A