Canonical Allele Identifier: PA645400879
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 290527
ClinVar RCV Id: RCV000726504 RCV003517178
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro259Leu
CA10069746
NM_001848.3:c.776C>T