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: PA103120

Gene: TPP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2648

ClinVar RCV Id: RCV000002767 RCV001851588

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000382.3:p.Asn286Ser	CA252381 NM_000391.4:c.857A>G