ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486555
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000548718
RCV003389793
RCV004021592
ClinVar Variation:
313589
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Glu4524Lys
CA7222498
NM_182914.2:c.13570G>A