Canonical Allele Identifier: PA098450
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289470
ClinVar RCV Id: RCV000286257 RCV000812322
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Lys571Thr
CA10070496
NM_001848.3:c.1712A>C