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: PA2827510110

Gene: MECR HGNC NCBI

Linked Data

ClinVar Variation Id: 374881

ClinVar RCV Id: RCV000415576 RCV000755159

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336645.1:p.Tyr313Cys	CA725617 NM_001349716.2:c.938A>G