ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093199
Gene: NHERF1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_004243.1:p.Glu225Lys
NM_004252.5:c.673G>A