ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097480
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000595502
RCV001155738
RCV001155739
RCV002532436
ClinVar Variation:
498907
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Thr2547Met
CA4057768
NM_033071.5:c.7640C>T