ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580213339
Gene: PUS10
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2270173
ClinVar RCV Id:
RCV004127631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001309056.1:p.Val55Ile
CA1672870
NM_001322127.1:c.163G>A