ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA097737
Gene: TECR
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-0.9375401964
Linked Data - NCBI & NCI
ClinVar Allele:
39767
ClinVar RCV:
RCV000023795
ClinVar Variation:
30810
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_612510.1:p.Pro182Leu
CA129481
NM_138501.6:c.545C>T