ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2825482648
Gene: ELN
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000522898
RCV001158464
RCV001158465
RCV004541630
ClinVar Variation:
449781
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001075224.1:p.Val154Met
CA4292496
NM_001081755.3:c.460G>A