Canonical Allele Identifier: PA645400883
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 340309
ClinVar RCV Id: RCV000295751 RCV000595689 RCV001861185
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro265Leu
CA10069754
NM_001848.3:c.794C>T