Canonical Allele Identifier: PA645400910
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283690
ClinVar RCV Id: RCV000272645 RCV001379719
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly305Glu
CA10604561
NM_001848.3:c.914G>A