Canonical Allele Identifier: PA2825403697
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300517
ClinVar RCV Id: RCV000273320 RCV000325945 RCV000365539 RCV000382922
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001035931.1:p.Ile340Val
CA5547512
NM_001042466.3:c.1018A>G