Canonical Allele Identifier: PA098431
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 282533
ClinVar RCV Id: RCV000267474 RCV000521707 RCV004535283
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001839.2:p.Gly341Val
CA10604208
NM_001848.3:c.1022G>T