ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573097370
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
448604
ClinVar RCV Id:
RCV000516561
RCV000726600
RCV001078470
RCV004541624
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Gln1768Arg
CA4058318
NM_033071.5:c.5303A>G