ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645486448
Gene: SYNE2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000361625
RCV000534225
ClinVar Variation:
281273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_878918.2:p.Leu2229Val
CA7220742
NM_182914.2:c.6685C>G