ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA158811
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120786
RCV000358437
RCV000896557
RCV001843479
RCV002256053
ClinVar Variation:
134114
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Ala182Val
CA158809
NM_000400.4:c.545C>T