ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915957834
Gene: ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
802999
ClinVar RCV Id:
RCV000989160
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Ala596Gly
CA388574373
NM_000123.4:c.1787C>G