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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257116.2:p.[Gln137_Pro143delinsThrAlaTrpThrSerArgThr;Gly145_Pro146delinsArgThr;Gly148_Pro152delinsArgThrSerArgThr;Gly154_Ala160delinsTrpProArgArgLysLeuCysSer;Gln162_Tyr165delinsAlaValLeuTrp]
CA2695226557
XM_005257059.4:c.407dup