ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148540
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
269427
ClinVar RCV:
RCV000276298
RCV002521932
ClinVar Variation:
285190
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Glu2395Gly
CA2187384
NM_057166.5:c.7184A>G