ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA104325
Gene: ERCC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
16781
ClinVar RCV Id:
RCV000018270
RCV001851906
RCV002490383
RCV003155035
RCV003343601
RCV003460482
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000391.1:p.Ala725Pro
CA126881
NM_000400.4:c.2173G>C