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: PA2826063970

Gene: EFHC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 659026

ClinVar RCV Id: RCV002235331

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001165891.1:p.Thr194Ala	CA138977104 NM_001172420.2:c.580A>G