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: PA2827186068

Gene: PHYH HGNC NCBI

Linked Data

ClinVar Variation Id: 7580

ClinVar RCV Id: RCV000008018 RCV000255609 RCV000505105 RCV000665657 RCV002426496

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001310013.1:p.Arg177Trp	CA118904 NM_001323084.2:c.529C>T