ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828247222
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_001354567.1:p.Val751Ile
CA4112491
NM_001367638.1:c.2251G>A