Canonical Allele Identifier: PA891851418
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 577147
ClinVar RCV Id: RCV000699825 RCV001531973
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ser115Asn
CA10069539
NM_001848.3:c.344G>A