Allele Registry

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Canonical Allele Identifier: Get Identifier

Gene: PTCH1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_005252159.1:p.Phe823Leu	CA5138282 XM_005252102.2:c.2469C>G CA374112775 XM_005252102.2:c.2469C>A CA374112780 XM_005252102.2:c.2467T>C