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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825172313
Gene: PHEX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1452868
ClinVar RCV Id:
RCV002037774
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000435.3:p.Gly649_Arg651del
CA2573158545
NM_000444.6:c.1946_1954del