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: PA2827293422

Gene: PATL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 444051

ClinVar RCV Id: RCV000512631

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317212.1:p.Ile129Thr	CA270118879 NM_001330283.2:c.386T>C