Canonical Allele Identifier: PA2829328837
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1715186
ClinVar RCV Id: RCV002299458
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ser683Pro
CA410541325
NM_001849.4:c.2047T>C