Canonical Allele Identifier: PA916054105
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 282184
ClinVar RCV Id: RCV000386454 RCV000329881 RCV000723333 RCV000725047 RCV001257054 RCV002227938
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly171Arg
CA10071315
NM_058175.3:c.511G>A
CA410521884
NM_058175.3:c.511G>C