ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826990010
Gene: INVS
HGNC
NCBI
Linked Data
ClinVar Variation Id:
289548
ClinVar RCV Id:
RCV000393475
RCV000638082
RCV002502150
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305310.1:p.Arg638Trp
CA5158579
NM_001318381.2:c.1912C>T