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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:
PA916014007
Gene: PHEX
HGNC
NCBI
Linked Data
ClinVar Variation Id:
438548
ClinVar RCV Id:
RCV000505429
RCV001092573
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001269683.1:p.Arg651Pro
CA412574236
NM_001282754.2:c.1952G>C