ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA916028844
Gene: ERCC6
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000483921
ClinVar Variation:
422107
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Leu549Pro
CA16618958
NM_001346440.2:c.1646T>C