ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830148438
Gene: COL6A3
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
268333
ClinVar RCV:
RCV000312116
RCV000558809
RCV000725390
ClinVar Variation:
284096
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_476507.3:p.Thr2272Met
CA2187481
NM_057166.5:c.6815C>T