Canonical Allele Identifier: PA645455039
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 335135
ClinVar RCV Id: RCV000327990 RCV002523126 RCV003168508 RCV003144226
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.His730Arg
CA2189460
NM_004369.4:c.2189A>G