ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA247504
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_000226.2:p.Ser297Gly
CA247503
NM_000235.4:c.889A>G