ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150121
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
273161
ClinVar RCV:
RCV000290353
RCV000653544
ClinVar Variation:
288924
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Arg1891Trp
CA2188357
NM_057167.4:c.5671C>T