Canonical Allele Identifier: PA891845188
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000255.2:p.Asp710Glu
CA5138446
NM_000264.5:c.2130C>A
CA374115592
NM_000264.5:c.2130C>G