ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658677973
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448621
ClinVar RCV Id:
RCV000517511
RCV000697816
RCV003925549
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Ser3587Phe
CA7221607
NM_182914.2:c.10760C>T