Canonical Allele Identifier: PA658810487
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 500103
ClinVar RCV Id: RCV000596884 RCV001303771
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro198Leu
CA10069629
NM_001848.3:c.593C>T