Canonical Allele Identifier: PA2825491855
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077072.1:p.Asn123Lys
CA5138977
NM_001083603.3:c.369C>G
CA374120177
NM_001083603.3:c.369C>A