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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:
PA2829136709
Gene: PATL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
444051
ClinVar RCV Id:
RCV000512631
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001374190.1:p.Ile318Thr
CA270118879
NM_001387261.1:c.953T>C