Canonical Allele Identifier: PA645434701
Gene: COL6A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 287718
ClinVar RCV Id: RCV000382527 RCV001081285 RCV002521980
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001840.3:p.Gly1009Ser
CA10073143
NM_001849.4:c.3025G>A