Canonical Allele Identifier: PA645433457
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 289341
ClinVar RCV Id: RCV000330502 RCV001850446
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Arg745Trp
CA10072475
NM_001849.4:c.2233C>T