ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830145776
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
335143
ClinVar RCV Id:
RCV000345761
RCV001235361
RCV003144227
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Ala149Thr
CA2189718
NM_057165.5:c.445G>A