ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830043822
Gene: SPEF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079143.3:p.Arg146His
CA3230167
NM_024867.4:c.437G>A