Canonical Allele Identifier: PA2825501231
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Gln350His
CA374118368
NM_001083604.3:c.1050G>T
CA374118369
NM_001083604.3:c.1050G>C