ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA913198446
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
629450
ClinVar RCV Id:
RCV000774157
RCV000808938
RCV002061084
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Ile387Val
CA051369
NM_024334.3:c.1159A>G