Canonical Allele Identifier: PA2741889012
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2687748
ClinVar RCV Id: RCV003484987
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys114Gln
CA410516090
NM_001848.3:c.340A>C