Canonical Allele Identifier: PA2828032759
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001341847.1:p.Val570Leu
CA5138490
NM_001354918.1:c.1708G>C
CA374116164
NM_001354918.1:c.1708G>T