ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825045960
Gene: ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134169
ClinVar RCV Id:
RCV000120842
RCV001112637
RCV000861420
RCV002256057
RCV003925184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Ala1119Val
CA158978
NM_000123.4:c.3356C>T