ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916053640
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284145
ClinVar RCV Id:
RCV000396878
RCV001041627
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Asp876Val
CA2188893
NM_057166.5:c.2627A>T