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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:
PA916037611
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102831
ClinVar RCV Id:
RCV000089088
RCV000411173
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Ala259Thr
CA229755
NM_001354304.2:c.775G>A