ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830087894
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000353115
RCV002518045
ClinVar Variation:
288605
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_149062.2:p.Thr6619Met
CA4054497
NM_033071.5:c.19856C>T