Canonical Allele Identifier: PA645401298
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290671
ClinVar RCV Id: RCV000393008 RCV000726530 RCV000800199
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala953Thr
CA10071053
NM_001848.3:c.2857G>A