ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA658802561
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
523368
ClinVar RCV Id:
RCV003117436
RCV003162768
RCV003444608
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Pro694Ser
CA9512893
NM_000400.4:c.2080C>T