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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:
PA645423293
Gene: PALB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
231162
ClinVar RCV Id:
RCV000218680
RCV000794879
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078951.2:p.Ser605Phe
CA10579996
NM_024675.4:c.1814C>T