ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658659417
Gene: SRP54
HGNC
NCBI
Linked Data
ClinVar Variation Id:
430852
ClinVar RCV Id:
RCV000999506
RCV000577900
RCV000731602
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003127.1:p.Thr117del
CA658658253
NM_003136.4:c.349_351del