ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658672314
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
476508
ClinVar RCV Id:
RCV000530306
RCV000732713
RCV003329167
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Gly736Ser
CA2189456
NM_004369.4:c.2206G>A