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Canonical Allele Identifier: Get Identifier
Gene: DHCR7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000435047.2:p.[Val295_Asp307delinsTrpProThrThrArgArgThrCysSerAlaAlaArgMet;Arg309_Lys316delinsAlaAlaSerSerGlyAlaGlySer;Lys318_Tyr324delinsArgSerSerSerAlaProThr]
CA6162326
ENST00000527316.6:c.883del