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: PA111320

Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56144

ClinVar RCV Id: RCV000049554

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000301.1:p.Trp38Cys	CA263461 NM_000310.4:c.114G>T CA339850672 NM_000310.4:c.114G>C