ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645455424
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289755
ClinVar RCV Id:
RCV000356761
RCV000546975
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Gly2074Ser
CA10606535
NM_004369.4:c.6220G>A