ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455102
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
273810
ClinVar RCV:
RCV000370349
RCV001068738
ClinVar Variation:
289573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Arg1252His
CA2189081
NM_004369.4:c.3755G>A