Canonical Allele Identifier: PA248069
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 199070
ClinVar RCV Id: RCV000180577 RCV001141472 RCV001212040 RCV004020175
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu311Asp
CA248067
NM_001849.4:c.933A>T
CA410526857
NM_001849.4:c.933A>C