ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA246487
Gene: SYNE1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000179213
RCV000349953
RCV000388054
RCV000713694
RCV001089269
RCV004537483
ClinVar Variation:
198014
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_892006.3:p.Leu3050Val
CA246486
NM_182961.4:c.9148C>G