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: PA2829733790

Gene: SLC17A5 HGNC NCBI

Linked Data

ClinVar Variation Id: 1359489

ClinVar RCV Id: RCV001894485

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_036566.1:p.Thr227Ser	CA364716471 NM_012434.5:c.680C>G CA364716473 NM_012434.5:c.679A>T