ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA093189
Gene: NHERF1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
5271
ClinVar RCV Id:
RCV000005589
RCV000484640
RCV001171340
RCV003914809
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004243.1:p.Arg153Gln
CA117369
NM_004252.5:c.458G>A