ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA253771
Gene: ELP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003631.2:p.Pro914Leu
CA253769
NM_003640.5:c.2741C>T