Canonical Allele Identifier: PA916054316
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 224657
ClinVar RCV Id: RCV000230758
ClinVar Variation Id: 1073867
ClinVar RCV Id: RCV001386985
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Lys318Asn
CA10575985
NM_058175.3:c.954G>T
CA410527027
NM_058175.3:c.954G>C