ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA658660969
Gene: ELP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
455955
ClinVar RCV Id:
RCV000540885
RCV004023734
RCV002525282
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_003631.2:p.Lys52Glu
CA5175441
NM_003640.5:c.154A>G