Canonical Allele Identifier: PA916054471
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 290313
ClinVar RCV Id: RCV000343057 RCV001325819
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Pro568Ser
CA10072121
NM_058175.3:c.1702C>T