ClinGen Allele Registry
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Canonical Allele Identifier:
PA220571
Gene: NPHP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
98627
ClinVar RCV:
RCV000078491
RCV001243180
RCV002483130
RCV002514380
ClinVar Variation:
92720
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000263.2:p.Ala258Val
CA220570
NM_000272.5:c.773C>T