ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830150878
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430329
ClinVar RCV Id:
RCV000493809
RCV001142819
RCV002063859
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Ser2867Gly
CA2187327
NM_057167.4:c.8599A>G