Canonical Allele Identifier: PA221763
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 93840
ClinVar RCV Id: RCV000079777 RCV001065719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg644Gln
CA221761
NM_001848.3:c.1931G>A