Canonical Allele Identifier: PA645401318
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373479
ClinVar RCV Id: RCV000413854 RCV000727243 RCV001088252 RCV004544724
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys990Gln
CA10071090
NM_001848.3:c.2968A>C