ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826307897
Gene: ELP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001229806.1:p.His180Arg
CA358006
NM_001242877.3:c.539A>G