Canonical Allele Identifier: PA645434527
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 265525
ClinVar RCV Id: RCV000254951 RCV000560338 RCV002227464
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg965Pro
CA10588713
NM_001849.4:c.2894G>C