ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA916074992
Gene: SPEF2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
403474
ClinVar RCV Id:
RCV000455441
RCV001692122
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_653323.1:p.Asp500Asn
CA3230495
NM_144722.4:c.1498G>A