Canonical Allele Identifier: PA913196822
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 595689
ClinVar RCV Id: RCV000731310 RCV001373094
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ile633Thr
CA410533518
NM_001848.3:c.1898T>C