ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830151895
Gene: COL6A2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001215835
ClinVar Variation:
945243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Gly268Val
CA410524590
NM_058174.3:c.803G>T