Canonical Allele Identifier: PA645455480
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 288128
ClinVar RCV Id: RCV000264469 RCV001317420
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Ile2593Phe
CA2187694
NM_004369.4:c.7777A>T