ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061327
Gene: ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134159
ClinVar RCV Id:
RCV000120832
RCV000995079
RCV001109705
RCV001293875
RCV002517588
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Pro19Leu
CA158939
NM_000123.4:c.56C>T