ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150864
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
268291
ClinVar RCV:
RCV000339597
RCV001364006
ClinVar Variation:
284054
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Cys2854Trp
CA2187338
NM_057167.4:c.8562C>G