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Canonical Allele Identifier: Get Identifier
Gene: COL6A1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000355180.3:p.[Ile100_Thr104delinsSerLysAlaSer;Met106_Asp111delinsAlaCysLeuAlaAla;Leu113_Lys114delinsThrHis;Ser116_Lys125delinsLysAlaAlaTrpThrArgSerSerThrLeu;Thr127_Tyr128delinsArgAlaPro]
CA501103
ENST00000361866.8:c.297del