Canonical Allele Identifier: PA208219
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 210748
ClinVar RCV Id: RCV000194202 RCV000266193 RCV000546019 RCV002227456
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ala878Val
CA208217
NM_001849.4:c.2633C>T