Canonical Allele Identifier: PA2830147833
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476507.3:p.Pro1481Leu
CA2188390
NM_057166.5:c.4442C>T
CA645514318
NM_057166.5:c.4442_4443delinsTT