Canonical Allele Identifier: PA915979790
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 56202
ClinVar RCV Id: RCV000049613 RCV000436288 RCV001526944 RCV002222156
ClinVar Variation Id: 1072746
ClinVar RCV Id: RCV001547349 RCV001385552
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Val78Leu
CA263521
NM_001142604.2:c.232G>T
CA339847926
NM_001142604.2:c.232G>C