Canonical Allele Identifier: PA239255
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 193672
ClinVar RCV Id: RCV000173801 RCV000794950
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gln1479Leu
CA239253
NM_004369.4:c.4436A>T