ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658827080
Gene: LIPA
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000226.2:p.His295Tyr
CA377516664
NM_000235.4:c.883C>T