Canonical Allele Identifier: PA658810530
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 520716
ClinVar RCV Id: RCV000624350 RCV000689918
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly275Val
CA410521483
NM_001848.3:c.824G>T