Canonical Allele Identifier: PA2825502077
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Gln512His
CA5138470
NM_001083604.3:c.1536G>C
CA374115890
NM_001083604.3:c.1536G>T