ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573061364
Gene: ERCC5
HGNC
NCBI
Linked Data
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Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_000114.3:p.Trp968Cys
NM_000123.4:c.2904G>C
NM_000123.4:c.2904G>T