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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:
PA299758
Gene: PALB2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
182776
ClinVar RCV Id:
RCV000160856
RCV003162680
RCV000799466
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_078951.2:p.Leu1151His
CA299756
NM_024675.4:c.3452T>A