Canonical Allele Identifier: PA2580259236
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2019338
ClinVar RCV Id: RCV002847028
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly332Val
CA410522740
NM_001848.3:c.995G>T