Canonical Allele Identifier: PA658810484
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543000
ClinVar RCV Id: RCV000653593 RCV002534200 RCV003144455
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys185Arg
CA10069602
NM_001848.3:c.554A>G