ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830148432
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
659290
ClinVar RCV Id:
RCV000816271
RCV003145189
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Pro2269Leu
CA2187488
NM_057166.5:c.6806C>T