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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:
PA1139742149
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
975467
ClinVar RCV Id:
RCV001252100
RCV003382491
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341233.1:p.Lys274Arg
CA386294555
NM_001354304.2:c.821A>G