ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580205569
Gene: ERCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV002644095
ClinVar Variation:
2200301
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Pro1095Leu
CA5495377
NM_001346440.2:c.3284C>T