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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:
PA658825255
Gene: PAH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
553851
ClinVar RCV Id:
RCV000669377
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000268.1:p.Asp101Asn
CA16020762
NM_000277.3:c.301G>A