ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817813
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
497839
ClinVar RCV Id:
RCV000594579
RCV001234226
RCV004024719
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Thr2880Met
CA2187480
NM_004369.4:c.8639C>T