ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830149565
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000520483
RCV000653583
ClinVar Variation:
451667
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Val1272Met
CA2188895
NM_057167.4:c.3814G>A