Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_011517170.1:p.Phe922Leu	CA5138282 XM_011518868.1:c.2766C>G CA374112775 XM_011518868.1:c.2766C>A CA374112780 XM_011518868.1:c.2764T>C