ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2826801219
Gene: NPHP4
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284756
ClinVar RCV Id:
RCV000398485
RCV001518477
RCV004535329
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001278523.1:p.Thr424Met
CA553929
NM_001291594.2:c.1271C>T