Canonical Allele Identifier: PA915972080
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 640152
ClinVar RCV Id: RCV000793116
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys125Asn
CA410516244
NM_001848.3:c.375G>C
CA410516245
NM_001848.3:c.375G>T