This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: PHEX HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000508264.1:p.[Leu248_Lys250del;Met252_Asp254del;Ala256_Asn262del;Arg265_Val273delinsTrpTrpIle;Arg275_Glu277delinsProCysPhe]
CA2837994999
ENST00000684143.1:c.742del