Canonical Allele Identifier: PA645434394
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289567
ClinVar RCV Id: RCV000340331 RCV000559325
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ala904Val
CA10072985
NM_001849.4:c.2711C>T