ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA3077692992
Gene: EHBP1L1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001092879.1:p.Val538Ala
CA381301859
NM_001099409.3:c.1613T>C