ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061330
Gene: ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
41495
ClinVar RCV Id:
RCV000034376
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Ala28Asp
CA261269
NM_000123.4:c.83C>A