Canonical Allele Identifier: PA658803404
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 498833
ClinVar RCV Id: RCV000596849 RCV000665538 RCV001450065 RCV003488716 RCV004543344
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Phe228Ser
CA5593637
NM_000235.4:c.683T>C