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: PA916068870

Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241271

ClinVar RCV Id: RCV001085155 RCV000786129 RCV003224237 RCV003955363

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_776065.1:p.Ser52Cys	CA8401825 NM_173717.2:c.155C>G