Canonical Allele Identifier: PA658810826
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 542974
ClinVar RCV Id: RCV000653532 RCV001584511
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg380Cys
CA10071717
NM_001849.4:c.1138C>T