Canonical Allele Identifier: PA645505877
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Ala451Thr
CA5138668
NM_000264.5:c.1351G>A
CA2695239792
NM_000264.5:c.1350_1351delinsAA