ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645413949
Gene: PSAP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
300525
ClinVar RCV Id:
RCV000291043
RCV000345936
RCV000391944
RCV000401145
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002769.1:p.Arg186His
CA5547747
NM_002778.4:c.557G>A