ClinGen Allele Registry
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Canonical Allele Identifier:
PA658817780
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
490756
ClinVar RCV:
RCV000591870
RCV001217460
ClinVar Variation:
499332
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala2627Thr
CA2187669
NM_004369.4:c.7879G>A