ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828253846
Gene: SUN1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
461649
ClinVar RCV Id:
RCV000536803
RCV004023861
RCV003935426
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354593.1:p.Val752Ile
CA4112491
NM_001367664.1:c.2254G>A