Canonical Allele Identifier: PA645413945
Gene: PSAP HGNC NCBI

Linked Data

ClinVar Variation Id: 300533
ClinVar RCV Id: RCV000274090 RCV000272506 RCV000327586 RCV000386828 RCV002522167 RCV004021479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_002769.1:p.Pro56Arg
CA5547881
NM_002778.4:c.167C>G