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: PA149101

Gene: NLGN4X HGNC NCBI

Linked Data

ClinVar Variation Id: 95980

ClinVar RCV Id: RCV000082034 RCV000990468 RCV000949113 RCV002311695

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_851849.1:p.Leu593Phe	CA149099 NM_181332.3:c.1777C>T