Canonical Allele Identifier: PA645401206
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283710
ClinVar RCV Id: RCV000274606 RCV001855128
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Phe762Ser
CA10604568
NM_001848.3:c.2285T>C