Canonical Allele Identifier: PA221766
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93847
ClinVar RCV Id: RCV000079784 RCV001442122 RCV001731367
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Met697Ile
CA221764
NM_001848.3:c.2091G>A
CA321978631
NM_001848.3:c.2091G>T
CA410535335
NM_001848.3:c.2091G>C