Canonical Allele Identifier: PA916054032
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 498068
ClinVar RCV Id: RCV000593689 RCV001215044
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Val47Met
CA10071219
NM_058175.3:c.139G>A