Canonical Allele Identifier: PA645401326
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286582
ClinVar RCV Id: RCV000371573 RCV000792846 RCV002519239
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gln1019Arg
CA10071120
NM_001848.3:c.3056A>G