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Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000396135.1:p.[Leu989del;Ser992_Phe996delinsGly;Val998_Val1018del]
CA2695210755
ENST00000418258.5:c.2964dup