Canonical Allele Identifier: PA248095
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 199091
ClinVar RCV Id: RCV000249892 RCV000653662 RCV001711471 RCV002516823
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Thr1406Met
CA248093
NM_004369.4:c.4217C>T