Canonical Allele Identifier: PA2499230894
Gene: PPT1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1035086
ClinVar RCV Id: RCV001337904
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000301.1:p.Met274Ile
CA339845731
NM_000310.4:c.822G>T
CA339845733
NM_000310.4:c.822G>C
CA339845735
NM_000310.4:c.822G>A