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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:
PA2830035879
Gene: PALB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1715787
ClinVar RCV Id:
RCV002301511
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078951.2:p.Leu603Ile
CA395128017
NM_024675.4:c.1807C>A