Canonical Allele Identifier: PA916054149
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288422
ClinVar RCV Id: RCV000386796 RCV000526278
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp215Asn
CA10071361
NM_058175.3:c.643G>A