ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580189797
Gene: PHEX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2173816
ClinVar RCV Id:
RCV002584756
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269683.1:p.Lys511Thr
CA10368286
NM_001282754.2:c.1532A>C