Canonical Allele Identifier: PA645401203
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432580
ClinVar RCV Id: RCV000497443 RCV001857018
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Val759Met
CA10070835
NM_001848.3:c.2275G>A