Canonical Allele Identifier: PA2499230559
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Trp844Cys
CA374113767
NM_000264.5:c.2532G>C
CA374113771
NM_000264.5:c.2532G>T