Canonical Allele Identifier: PA916054245
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162532
ClinVar RCV Id: RCV000593309 RCV000810925
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Gly286Glu
CA295264
NM_058175.3:c.857G>A