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: PA916043985

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 493034

ClinVar RCV Id: RCV000585383 RCV001277583

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001350624.1:p.Lys216Arg	CA339846898 NM_001363695.2:c.647A>G