ClinGen Allele Registry
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Canonical Allele Identifier:
PA2827255816
Gene: ELP2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001311394.1:p.His206Arg
CA358006
NM_001324465.2:c.617A>G