Canonical Allele Identifier: PA2573062123
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Lys746Asn
CA5138431
NM_000264.5:c.2238A>T
CA374115210
NM_000264.5:c.2238A>C