ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580501647
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1961007
ClinVar RCV Id:
RCV002715780
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Phe618del
CA2580099014
NM_058175.3:c.1852_1854del