Canonical Allele Identifier: PA2825512873
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077076.1:p.Glu573Asp
CA5138441
NM_001083607.3:c.1719G>C
CA374115449
NM_001083607.3:c.1719G>T