ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915967245
Gene: LIPA
HGNC
NCBI
Linked Data
ClinVar Variation Id:
198700
ClinVar RCV Id:
RCV000180114
RCV003165377
RCV002516811
RCV004539691
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121077.1:p.Ser297Gly
CA247503
NM_001127605.3:c.889A>G