Canonical Allele Identifier: PA257734
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17169
ClinVar RCV Id: RCV000018709
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly526Val
CA257732
NM_001848.3:c.1577G>T