Canonical Allele Identifier: PA658804681
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Asp776Glu
CA196585882
NM_000264.5:c.2328C>A
CA374114587
NM_000264.5:c.2328C>G