Canonical Allele Identifier: PA152464
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 128815
ClinVar RCV Id: RCV000116794 RCV000281717 RCV000290682 RCV000339033 RCV000557640 RCV002498506
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ala994Thr
CA152462
NM_001849.4:c.2980G>A