Canonical Allele Identifier: PA222642
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 94965
ClinVar RCV Id: RCV000080970 RCV002514420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ala2208Ser
CA222640
NM_004369.4:c.6622G>T