Canonical Allele Identifier: PA2825513124
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Trp693Cys
CA374113767
NM_001083607.3:c.2079G>C
CA374113771
NM_001083607.3:c.2079G>T