ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830152337
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
575898
ClinVar RCV Id:
RCV000698242
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Gly646Asp
CA10072338
NM_058174.3:c.1937G>A