ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658815471
Gene: PSMC3IP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
499796
ClinVar RCV Id:
RCV000593144
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_057640.1:p.Val94Met
CA8579048
NM_016556.4:c.280G>A