Canonical Allele Identifier: PA645401235
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 258298
ClinVar RCV Id: RCV000247019 RCV000766392 RCV001854959 RCV004021007
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala838Thr
CA10070947
NM_001848.3:c.2512G>A