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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:
PA916050271
Gene: PALB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
822401
ClinVar RCV Id:
RCV001017736
RCV003500629
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078951.2:p.Met992Lys
CA395143941
NM_024675.4:c.2975T>A