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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:
PA645423112
Gene: PALB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
418396
ClinVar RCV Id:
RCV000486346
RCV000571809
RCV000685721
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078951.2:p.Ser488Gly
CA7963706
NM_024675.4:c.1462A>G