Canonical Allele Identifier: PA2825510316
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077075.1:p.Asp727Glu
CA5138358
NM_001083606.3:c.2181C>A
CA374113423
NM_001083606.3:c.2181C>G