Canonical Allele Identifier: PA658663350
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476480
ClinVar RCV Id: RCV000556569 RCV000733635 RCV000660619
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Leu976Ser
CA10073100
NM_001849.4:c.2927T>C