ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486491
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000382773
RCV001227453
ClinVar Variation:
289763
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Leu3144Phe
CA10606537
NM_182914.2:c.9430C>T