Canonical Allele Identifier: PA231049
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 128813
ClinVar RCV Id: RCV000116792 RCV000149921 RCV000303402 RCV000515158 RCV001080605
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val117Met
CA231047
NM_001848.3:c.349G>A