Canonical Allele Identifier: PA209212
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 210751
ClinVar RCV Id: RCV000194796 RCV000693810 RCV000725387
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro1630Ser
CA209210
NM_004369.4:c.4888C>T