ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA113413
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
40870
ClinVar RCV Id:
RCV000033854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Glu85Lys
CA024638
NM_024334.3:c.253G>A