Canonical Allele Identifier: PA241441
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 195151
ClinVar RCV Id: RCV000202666 RCV000390817 RCV000724857 RCV001086453 RCV004537387
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala57Asp
CA241439
NM_001848.3:c.170C>A