Canonical Allele Identifier: PA2830150114
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_476508.2:p.Pro1882Leu
CA2188390
NM_057167.4:c.5645C>T
CA645514318
NM_057167.4:c.5645_5646delinsTT