ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA260557
Gene: TMEM43
HGNC
NCBI
Linked Data
ClinVar Variation Id:
36870
ClinVar RCV Id:
RCV000030552
RCV000699323
RCV001185017
RCV004017272
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Leu384Val
CA024597
NM_024334.3:c.1150C>G