Canonical Allele Identifier: PA916054599
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 340372
ClinVar RCV Id: RCV000346561 RCV000387074 RCV000808997
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_478055.2:p.Asp712Tyr
CA10653709
NM_058175.3:c.2134G>T