ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580457993
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1773972
ClinVar RCV Id:
RCV002389889
RCV003095243
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Tyr5Cys
CA051888
NM_024334.3:c.14A>G