Canonical Allele Identifier: PA2825121988
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Val1116Leu
CA374111856
NM_000264.5:c.3346G>T
CA374111857
NM_000264.5:c.3346G>C