Canonical Allele Identifier: PA2573238327
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1491222
ClinVar RCV Id: RCV001986370
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Val2078Leu
CA351216661
NM_004369.4:c.6232G>T
CA351216663
NM_004369.4:c.6232G>C