ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA3063876937
Gene: EPHX1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000111.1:p.His139Leu
CA1418402
NM_000120.4:c.416A>T