ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2828434568
Gene: PSPH
HGNC
NCBI
Linked Data
ClinVar Variation Id:
13624
ClinVar RCV Id:
RCV000014594
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001357432.1:p.Met52Thr
CA123296
NM_001370503.1:c.155T>C