ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828246762
Gene: SUN1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000536803
RCV003935426
RCV004023861
ClinVar Variation:
461649
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001354565.1:p.Val795Ile
CA4112491
NM_001367636.1:c.2383G>A