ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147249
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
196252
ClinVar RCV:
RCV000180600
RCV000803816
ClinVar Variation:
199093
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Arg701Gln
CA248099
NM_057166.5:c.2102G>A