Canonical Allele Identifier: PA2825242431
Gene: PUS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2428173
ClinVar RCV Id: RCV003117144
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001002019.1:p.Asn166Lys
CA6884198
NM_001002019.3:c.498C>G
CA387298738
NM_001002019.3:c.498C>A