Canonical Allele Identifier: PA2825115895
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2128029
ClinVar RCV Id: RCV003036137
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Asn82Lys
CA339849358
NM_000310.4:c.246C>G
CA339849360
NM_000310.4:c.246C>A