ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830024299
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3071290
ClinVar RCV Id:
RCV004014792
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Phe351Ser
CA351536447
NM_024334.3:c.1052T>C