ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830043814
Gene: SPEF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_079143.3:p.His83Arg
CA3230109
NM_024867.4:c.248A>G