ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827402843
Gene: THOC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
521349
ClinVar RCV Id:
RCV000624518
RCV000850494
RCV001541157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001334632.1:p.Gly251Asp
CA7855194
NM_001347703.2:c.752G>A