ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2826988377
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
526181
ClinVar RCV Id:
RCV000630678
RCV001274628
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001305289.1:p.Tyr372Cys
CA5175023
NM_001318360.2:c.1115A>G