ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826919721
Gene: EXPH5
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001294948.1:p.Glu1649Lys
CA6267429
NM_001308019.2:c.4945G>A