Canonical Allele Identifier: PA645400596
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 285070
ClinVar RCV Id: RCV000336707 RCV002518958
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Thr104Met
CA10069523
NM_001848.3:c.311C>T