Canonical Allele Identifier: PA658803400
Gene: LIPA HGNC NCBI

Linked Data

ClinVar Variation Id: 501531
ClinVar RCV Id: RCV000598187 RCV000857276 RCV001867978
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000226.2:p.Asn98Lys
CA5593767
NM_000235.4:c.294C>G
CA377518019
NM_000235.4:c.294C>A