Canonical Allele Identifier: PA645432761
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 285361
ClinVar RCV Id: RCV000337273 RCV001223613
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Thr63Met
CA10071227
NM_001849.4:c.188C>T