Canonical Allele Identifier: PA2825507298
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077074.1:p.Gly715Arg
CA5138362
NM_001083605.3:c.2143G>A
CA374113512
NM_001083605.3:c.2143G>C