Canonical Allele Identifier: PA658810705
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 542966
ClinVar RCV Id: RCV000653518 RCV003128682
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Thr951Met
CA10071051
NM_001848.3:c.2852C>T