ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147803
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
272054
ClinVar RCV:
RCV000396169
RCV000485229
ClinVar Variation:
287817
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Gly1464Asp
CA10605883
NM_057166.5:c.4391G>A