ClinGen Allele Registry
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Canonical Allele Identifier:
PA645454619
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
335144
ClinVar RCV Id:
RCV000330460
RCV000734569
RCV001088712
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Asp156Tyr
CA2189859
NM_004369.4:c.466G>T