Canonical Allele Identifier: PA658810960
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 542994
ClinVar RCV Id: RCV000653584 RCV003144452
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg862Trp
CA10072936
NM_001849.4:c.2584C>T