ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828435956
Gene: PSPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13623
ClinVar RCV Id:
RCV000014593
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357446.1:p.Asp32Asn
CA123295
NM_001370517.1:c.94G>A