Canonical Allele Identifier: PA645455484
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 283059
ClinVar RCV Id: RCV000313443 RCV001078995
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Met2651Ile
CA2187653
NM_004369.4:c.7953G>A
CA351197120
NM_004369.4:c.7953G>T
CA351197121
NM_004369.4:c.7953G>C