ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827346362
Gene: ELP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001317678.1:p.Arg347Pro
CA253767
NM_001330749.2:c.1040G>C