ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658817413
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
501802
ClinVar RCV Id:
RCV000596560
RCV001342429
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Asp156Ala
CA2189858
NM_004369.4:c.467A>C