Canonical Allele Identifier: PA916054282
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498987
ClinVar RCV Id: RCV000596159 RCV001379563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly295Arg
CA410525272
NM_058175.3:c.883G>A
CA410525276
NM_058175.3:c.883G>C