ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139746259
Gene: TMEM43
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001191659
RCV001359549
ClinVar Variation:
928011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_077310.1:p.Ala57Ser
CA052070
NM_024334.3:c.169G>T