ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828516415
Gene: DYM
HGNC
NCBI
Linked Data
ClinVar Variation Id:
326894
ClinVar RCV Id:
RCV000351589
RCV000391081
RCV000729040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001361371.1:p.Arg378Gln
CA8958003
NM_001374442.1:c.1133G>A