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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:
PA105113
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
102805
ClinVar RCV Id:
RCV000089056
RCV000688713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Arg241Leu
CA229716
NM_000277.3:c.722G>T