Canonical Allele Identifier: PA658803401
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 528226
ClinVar RCV Id: RCV000633314 RCV002509479
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Arg127Trp
CA5593752
NM_000235.4:c.379C>T