Canonical Allele Identifier: PA658659283
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 476442
ClinVar RCV Id: RCV000547261 RCV004024369
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Pro294Ala
CA10069824
NM_001848.3:c.880C>G