Canonical Allele Identifier: PA645400693
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283031
ClinVar RCV Id: RCV000396281 RCV001081124 RCV001140700
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys180Arg
CA10069599
NM_001848.3:c.539A>G