ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580136096
Gene: CD53
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001035122.1:p.Leu142Val
CA1001184
NM_001040033.2:c.424C>G