ClinGen Allele Registry
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Canonical Allele Identifier:
PA1139747054
Gene: TMEM43
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
931786
ClinVar RCV:
RCV001206778
RCV001823765
ClinVar Variation:
937703
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Pro386Ser
CA351536638
NM_024334.3:c.1156C>T