Canonical Allele Identifier: PA645400893
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 381711
ClinVar RCV Id: RCV000423549 RCV001212382
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly287Arg
CA16608537
NM_001848.3:c.859G>A
CA410521716
NM_001848.3:c.859G>C