ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093220
Gene: NHERF1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000005588
RCV001514734
RCV001701718
ClinVar Variation:
5270
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004243.1:p.Leu110Val
CA117368
NM_004252.5:c.328C>G