Canonical Allele Identifier: PA645401131
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 289469
ClinVar RCV Id: RCV000380652 RCV001298873
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro588Leu
CA10070536
NM_001848.3:c.1763C>T