Canonical Allele Identifier: PA645401307
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 284124
ClinVar RCV Id: RCV000306204 RCV000803200 RCV003352820
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Arg964Trp
CA10071064
NM_001848.3:c.2890C>T