Canonical Allele Identifier: PA916042771
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Gly19Val
CA332592
NM_001354918.1:c.56G>T
CA3260661887
NM_001354918.1:c.48_56delinsTGGCAGCGT