ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA248164
Gene: INVS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
199130
ClinVar RCV Id:
RCV000180643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_055240.2:p.Thr392Ile
CA248163
NM_014425.5:c.1175C>T