Canonical Allele Identifier: PA645455417
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 422102
ClinVar RCV Id: RCV000486882 RCV000800319
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gly2056Glu
CA16617501
NM_004369.4:c.6167G>A