ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829382340
Gene: PSAP
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000014299
ClinVar Variation:
13370
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002769.1:p.Cys382Gly
CA123065
NM_002778.4:c.1144T>G