Canonical Allele Identifier: PA891856994
Gene: COL6A3 HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro2088Leu
CA2188390
NM_004369.4:c.6263C>T
CA645514318
NM_004369.4:c.6263_6264delinsTT