Canonical Allele Identifier: PA645401312
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288011
ClinVar RCV Id: RCV000372586 RCV000691631
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ile967Val
CA10071066
NM_001848.3:c.2899A>G