ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA222666
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
95000
ClinVar RCV Id:
RCV000081005
RCV001324707
RCV002514422
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Ala2670Thr
CA222664
NM_004369.4:c.8008G>A