Canonical Allele Identifier: PA645400990
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 286584
ClinVar RCV Id: RCV000318344 RCV001328886
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala409Glu
CA10070161
NM_001848.3:c.1226C>A