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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000225964.5:p.[Gly929_Glu933delinsAlaLeuLeuAlaArg;Gly935_Thr948delinsAspProLeuValLeuMetValLeuLeuValLeuLeuValLeu;Pro951_Arg958delinsLeuLysValLeuLeuAspSer]
CA291543187
ENST00000225964.9:c.2784del