Canonical Allele Identifier: PA645454696
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 281848
ClinVar RCV Id: RCV000316225 RCV000526526
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val374Met
CA2189701
NM_004369.4:c.1120G>A