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: PA166993

Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 141974

ClinVar RCV Id: RCV000130728 RCV000226292 RCV000483048 RCV001194142 RCV000764042 RCV003153422 RCV003149901

ClinVar Variation Id: 955759

ClinVar RCV Id: RCV001228456

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_078951.2:p.Val1103Leu	CA166991 NM_024675.4:c.3307G>C CA395139465 NM_024675.4:c.3307G>T