ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061363
Gene: ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134165
ClinVar RCV Id:
RCV000120838
RCV000356768
RCV000912403
RCV002256055
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Arg964Trp
CA158962
NM_000123.4:c.2890C>T