ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830147957
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
498274
ClinVar RCV Id:
RCV000594165
RCV000726810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Gly1660Ser
CA2188081
NM_057166.5:c.4978G>A