ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580551357
Gene: IZUMO1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2210832
ClinVar RCV Id:
RCV004079396
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_872381.2:p.Pro285Leu
CA9557291
NM_182575.3:c.854C>T