ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645375671
Gene: NPHS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
392914
ClinVar RCV Id:
RCV000428437
RCV001277277
RCV001124538
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_004637.1:p.Thr1152Met
CA9389754
NM_004646.4:c.3455C>T