ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830145858
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288501
ClinVar RCV Id:
RCV000397876
RCV003765657
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476506.3:p.Gly251Val
CA2189634
NM_057165.5:c.752G>T