Canonical Allele Identifier: PA916054425
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498126
ClinVar RCV Id: RCV000597963 RCV001229580 RCV004024727
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Pro476His
CA10071871
NM_058175.3:c.1427C>A