ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645427240
Gene: ELP1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003631.2:p.Ser68Ile
CA5175432
NM_003640.5:c.203G>T