Canonical Allele Identifier: PA2829328698
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1379157
ClinVar RCV Id: RCV001914780 RCV003490910
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Ile626Thr
CA10072317
NM_001849.4:c.1877T>C