Canonical Allele Identifier: PA2742003051
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870707
ClinVar RCV Id: RCV003632302
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Phe671Leu
CA410539783
NM_058175.3:c.2011T>C
CA410539805
NM_058175.3:c.2013T>A
CA410539809
NM_058175.3:c.2013T>G