Canonical Allele Identifier: PA2825490540
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077071.1:p.Thr1094Ser
CA5138130
NM_001083602.3:c.3281C>G
CA374111575
NM_001083602.3:c.3280A>T