Canonical Allele Identifier: PA2825512475
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Val405Ile
CA16618906
NM_001083607.3:c.1212_1213delinsCA
CA374118001
NM_001083607.3:c.1213G>A