Canonical Allele Identifier: PA239568
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 193877
ClinVar RCV Id: RCV000174099 RCV000547737 RCV000765642
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ile1781Val
CA239566
NM_004369.4:c.5341A>G