Canonical Allele Identifier: PA658817770
Gene: COL6A3 HGNC NCBI

Linked Data

ClinVar Variation Id: 542979
ClinVar RCV Id: RCV000653550
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_004360.2:p.Gln2556His
CA351201429
NM_004369.4:c.7668G>T
CA351201431
NM_004369.4:c.7668G>C