ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA158908
Gene: ERCC4
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120821
RCV000224511
RCV001083882
RCV001116216
RCV002257432
RCV003224157
RCV003925183
ClinVar Variation:
134148
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005227.1:p.Pro379Ser
CA158906
NM_005236.3:c.1135C>T