ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580171545
Gene: TEX14
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2290293
ClinVar RCV Id:
RCV004145810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001188386.1:p.Ser1255Cys
CA400337466
NM_001201457.2:c.3764C>G