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: PA2827817979

Gene: EHMT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 802551

ClinVar RCV Id: RCV000988315

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001341192.1:p.Pro511Arg	CA375768965 NM_001354263.2:c.1532C>G