ClinGen Allele Registry
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Canonical Allele Identifier:
PA916047862
Gene: RPUSD1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
161795
ClinVar RCV Id:
RCV000149331
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001356588.1:p.His48Arg
CA174798
NM_001369659.1:c.143A>G