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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005257115.2:p.[Ile134Asn;Gly136_Pro143delinsTrpThrAlaTrpThrSerArgThr;Gly145_Pro146delinsArgThr;Gly148_Pro152delinsArgThrSerArgThr;Gly154_Leu163delinsTrpProArgArgLysLeuCysSerProAla]
CA1139665715
XM_005257058.4:c.400dup