ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645472435
Gene: ELN
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000492.2:p.Pro211Ser
NM_000501.4:c.631C>T