Canonical Allele Identifier: PA2828035226
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Gly1244Arg
CA5138016
NM_001354918.1:c.3730G>A
CA374110723
NM_001354918.1:c.3730G>C