ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826990485
Gene: INVS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194407
ClinVar RCV Id:
RCV000174771
RCV001084833
RCV003947476
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305311.1:p.Asp445Asn
CA240334
NM_001318382.2:c.1333G>A