ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147126
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
269203
ClinVar RCV:
RCV000367831
RCV000765644
RCV002518954
ClinVar Variation:
284966
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Ile560Phe
CA10604971
NM_057166.5:c.1678A>T