ClinGen Allele Registry
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Canonical Allele Identifier:
PA2830088531
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284257
ClinVar RCV Id:
RCV000300395
RCV000340078
RCV000725416
RCV000822036
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Ala7247Thr
CA4054011
NM_033071.5:c.21739G>A