ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916074988
Gene: SPEF2
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653323.1:p.Asn71His
CA3230100
NM_144722.4:c.211A>C