Canonical Allele Identifier: PA1139756813
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 896443
ClinVar RCV Id: RCV001139089 RCV001324206 RCV001560752
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Arg610His
CA10072304
NM_058175.3:c.1829G>A