This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PTCH1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011517172.1:p.[Leu989del;Ser992_Phe996delinsGly;Val998_Val1018del]
CA2695210755
XM_011518870.1:c.2964dup