Canonical Allele Identifier: PA658663372
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476484
ClinVar RCV Id: RCV000541027 RCV001653926
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg1016His
CA10073156
NM_001849.4:c.3047G>A