ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645426932
Gene: SPRED1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000214558
RCV000229299
RCV001705204
RCV001813431
RCV004020634
ClinVar Variation:
229269
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_689807.1:p.Thr196Ile
CA501231
NM_152594.3:c.587C>T