Canonical Allele Identifier: PA658817665
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542964
ClinVar RCV Id: RCV000653513 RCV002536303 RCV003144450
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Pro1897Leu
CA2188604
NM_004369.4:c.5690C>T