Canonical Allele Identifier: PA645401316
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288875
ClinVar RCV Id: RCV000296392 RCV001036519
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val985Ile
CA10071086
NM_001848.3:c.2953G>A