ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139747018
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
919333
ClinVar RCV Id:
RCV001177464
RCV001553697
RCV004033006
RCV003600400
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Leu384Phe
CA051355
NM_024334.3:c.1150C>T