Canonical Allele Identifier: PA2573220358
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1521002
ClinVar RCV Id: RCV002031044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Phe637Leu
CA410533579
NM_001848.3:c.1909T>C
CA410533588
NM_001848.3:c.1911C>A
CA410533589
NM_001848.3:c.1911C>G