ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139746989
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
942943
ClinVar RCV Id:
RCV001213034
RCV002484161
RCV003532895
RCV001700720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Phe353Ser
CA69738133
NM_024334.3:c.1058T>C