ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139687268
Gene: SRP54
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001139754.1:p.Thr68del
CA658658253
NM_001146282.2:c.202_204del