Canonical Allele Identifier: PA916054407
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 166931
ClinVar RCV Id: RCV000153083 RCV000557300
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp446His
CA233813
NM_058175.3:c.1336G>C