Canonical Allele Identifier: PA2828033251
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Lys694Asn
CA5138431
NM_001354918.1:c.2082A>T
CA374115210
NM_001354918.1:c.2082A>C