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: PA149003

Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 95886

ClinVar RCV Id: RCV000081934 RCV000264256 RCV000443244 RCV003915095 RCV003764768

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_060570.2:p.Asp210Val	CA149002 NM_018100.3:c.629A>T