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: PA2827346888

Gene: ELP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 259112

ClinVar RCV Id: RCV000250637 RCV000280679 RCV000589688

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001317678.1:p.Cys723Ser	CA5174387 NM_001330749.2:c.2167T>A CA374414828 NM_001330749.2:c.2168G>C