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Canonical Allele Identifier: Get Identifier
Gene: COL4A6 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000443707.2:p.[Thr1594del;Ala1596del;Ala1598Trp;Gly1601delinsValArgAspCysArgTrpCysArg;Gln1603_Leu1605delinsTrpArgPro;Ser1607del;Ser1610_Phe1615delinsLeuThrTrpLeuLeuPro;Ala1617_Pro1619delinsGlyLeuSerGlyHisSer;Ile1621_Cys1623delinsHisArgMet]
CA2554010107
ENST00000545689.2:c.4779_4780insGCCGGGTGGGAAGGTGTCCGGG