ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830152309
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
29640
ClinVar RCV Id:
RCV000726381
RCV000822059
RCV003764618
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478054.2:p.Glu624Lys
CA259612
NM_058174.3:c.1870G>A