ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061333
Gene: ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16572
ClinVar RCV Id:
RCV000018040
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Pro72His
CA126683
NM_000123.4:c.215C>A