ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573061366
Gene: ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134175
ClinVar RCV Id:
RCV000120848
RCV000312757
RCV000980003
RCV002255297
RCV003153390
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Leu999Val
CA159002
NM_000123.4:c.2995T>G