Canonical Allele Identifier: PA645401078
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290085
ClinVar RCV Id: RCV000302645 RCV000332382 RCV000819830
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Thr518Asn
CA10070395
NM_001848.3:c.1553C>A