ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580501640
Gene: COL6A2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1921109
ClinVar RCV Id:
RCV002608628
RCV002608627
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Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_478055.2:p.Gly612Ala
CA410538439
NM_058175.3:c.1835G>C