Canonical Allele Identifier: PA658810628
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 497367
ClinVar RCV Id: RCV000595360 RCV001860153
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro679Ser
CA10070726
NM_001848.3:c.2035C>T