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Canonical Allele Identifier: Get Identifier
Gene: COL5A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000360882.3:p.[Leu1767_Asn1779delinsTrpAlaProThrThrArgArgCysProMetThrThrThr;Tyr1781_Lys1792delinsThrSerAlaProTrpTrpThrAlaValLeuProArg;Gly1794_Gln1796delinsAlaThrArg]
CA658656060
ENST00000371817.8:c.5299del