ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA251956
Gene: SPRED1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_689807.1:p.Arg64Ter
NM_152594.3:c.190C>T