Canonical Allele Identifier: PA2825500866
Gene: PTCH1 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001077073.1:p.Ala300Thr
CA5138668
NM_001083604.3:c.898G>A
CA2695239792
NM_001083604.3:c.897_898delinsAA