ClinGen Allele Registry
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Canonical Allele Identifier:
PA645455092
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_004360.2:p.Ile1167Phe
CA10604971
NM_004369.4:c.3499A>T