Canonical Allele Identifier: PA288998
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 130023
ClinVar RCV Id: RCV000118048 RCV000675768 RCV001083646 RCV002312235
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Gln279His
CA288996
NM_000310.4:c.837G>C
CA339845658
NM_000310.4:c.837G>T