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: PA118371

Gene: PNPLA6 HGNC NCBI

Linked Data

ClinVar Variation Id: 6606

ClinVar RCV Id: RCV000006985

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_006693.3:p.Arg890His	CA118370 NM_006702.5:c.2669G>A