Canonical Allele Identifier: PA2828031370
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Trp129Arg
CA374120150
NM_001354918.1:c.385T>C
CA374120151
NM_001354918.1:c.385T>A