ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916016025
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
657835
ClinVar RCV Id:
RCV000814533
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Glu2753Lys
CA351195762
NM_004369.4:c.8257G>A