Canonical Allele Identifier: PA2825805140
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 978124
ClinVar RCV Id: RCV001256066 RCV001879952
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001136076.1:p.Cys6Ser
CA789860
NM_001142604.2:c.17G>C
CA339850858
NM_001142604.2:c.16T>A