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Canonical Allele Identifier: Get Identifier
Gene: DHCR7 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508207.1:p.[Val312_Tyr316delinsLeuAlaAlaLeuSer;Tyr318_Pro336delinsHisAlaAlaGlyGluGluGlyLeuTyrLeuValTyrHisProValGlnLeuSerThr;Arg338_Trp341delinsHisAlaValGly]
CA658823155
ENST00000683714.1:c.934_935del