ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826990396
Gene: INVS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
194250
ClinVar RCV Id:
RCV000174577
RCV001081209
RCV003937566
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305311.1:p.Lys316Arg
CA240125
NM_001318382.2:c.947A>G