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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:
PA2825069282
Gene: CYP1B1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3079390
ClinVar RCV Id:
RCV004367784
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000095.2:p.Leu72Phe
CA346329690
NM_000104.4:c.214C>T