Canonical Allele Identifier: PA645400587
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 288943
ClinVar RCV Id: RCV000338991 RCV002518061
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Thr25Asn
CA10069432
NM_001848.3:c.74C>A