ClinGen Allele Registry
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Canonical Allele Identifier:
PA891857094
Gene: COL6A3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
582929
ClinVar RCV Id:
RCV000707125
RCV003319412
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004360.2:p.Asp3021del
CA2187367
NM_004369.4:c.9061_9063del