Canonical Allele Identifier: PA645433462
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 288586
ClinVar RCV Id: RCV000362319 RCV000764267 RCV000809905
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Asp751Asn
CA10072486
NM_001849.4:c.2251G>A