ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830149589
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
166943
ClinVar RCV Id:
RCV000528795
RCV000487673
RCV001141518
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476508.2:p.Arg1298Trp
CA233835
NM_057167.4:c.3892C>T