Canonical Allele Identifier: PA915967181
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_001121077.1:p.Phe228Ser
CA5593637
NM_001127605.3:c.683T>C