Allele Registry

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.

Canonical Allele Identifier: PA269485

Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126591

ClinVar RCV Id: RCV000114461 RCV000483203 RCV000567033 RCV002483178

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078951.2:p.Ser382Ile	CA269483 NM_024675.4:c.1145G>T