Canonical Allele Identifier: PA221803
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93895
ClinVar RCV Id: RCV000173743 RCV000173744 RCV001813755 RCV002483138
ClinVar Variation Id: 1076562
ClinVar RCV Id: RCV001390509
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly293Arg
CA221801
NM_001848.3:c.877G>A
CA410521779
NM_001848.3:c.877G>C