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Canonical Allele Identifier: Get Identifier
Gene: COL1A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000079.2:p.[Gly476_Pro477delinsArg;Gly479_Leu480delinsHisTrp;Gly482_Glu486delinsAla;Gly488_Gly489delinsThr;Gly491_Ser492delinsTrp;Gly494_Gly497del;Asp499_Lys505delinsTrpTrpThrTrp]
CA2697560410
NM_000088.4:c.1425dup