Canonical Allele Identifier: PA645400982
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282894
ClinVar RCV Id: RCV000272761 RCV000401661 RCV001079041
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Glu372Gly
CA10070083
NM_001848.3:c.1115A>G