Canonical Allele Identifier: PA658663233
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 476454
ClinVar RCV Id: RCV000594262 RCV001085505 RCV001141593
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Glu536Lys
CA10072019
NM_001849.4:c.1606G>A