Canonical Allele Identifier: PA645401287
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284556
ClinVar RCV Id: RCV000384266 RCV000799758
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala935Thr
CA10071038
NM_001848.3:c.2803G>A