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: PA2827378766

Gene: DPH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521028

ClinVar RCV Id: RCV000622588 RCV000677664 RCV001574312 RCV003928037 RCV004525988

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001333503.1:p.Leu125Pro	CA8276945 NM_001346574.1:c.374T>C