ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375552
Gene: NPHS1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000495969
ClinVar Variation:
430877
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Val736Met
CA405397157
NM_004646.4:c.2206G>A