Canonical Allele Identifier: PA1139706975
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 961466
ClinVar RCV Id: RCV001235162 RCV001814285
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Phe2493Leu
CA2187794
NM_004369.4:c.7477T>C
CA351202713
NM_004369.4:c.7479T>G
CA351202715
NM_004369.4:c.7479T>A