Canonical Allele Identifier: PA658677486
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Glu724Asp
CA5138441
NM_000264.5:c.2172G>C
CA374115449
NM_000264.5:c.2172G>T