ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830086766
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000498329
RCV000730469
RCV001086544
ClinVar Variation:
432309
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Met5563Thr
CA4055393
NM_033071.5:c.16688T>C