ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028814
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar Variation Id:
190174
ClinVar RCV Id:
RCV000170393
RCV000287342
RCV000340086
RCV000404438
RCV000726037
RCV002515216
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Leu224Phe
CA199603
NM_001346440.2:c.670C>T