Canonical Allele Identifier: PA645401304
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284877
ClinVar RCV Id: RCV000378705 RCV000816415
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Ala958Asp
CA10071056
NM_001848.3:c.2873C>A