Canonical Allele Identifier: PA645400729
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284064
ClinVar RCV Id: RCV000379600 RCV000694197 RCV001142578 RCV004021149
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Thr208Met
CA10069636
NM_001848.3:c.623C>T