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: PA2828910789

Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1359489

ClinVar RCV Id: RCV001894485

JSON-LD

Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_001369564.1:p.Thr226Ser	CA364716471 NM_001382635.1:c.677C>G CA364716473 NM_001382635.1:c.676A>T