ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827068001
Gene: GPSM2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
435358
ClinVar RCV Id:
RCV000503895
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001307967.1:p.Thr518Ile
CA983087
NM_001321038.2:c.1553C>T