ClinGen Allele Registry
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Canonical Allele Identifier:
PA916028830
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000266947
RCV000324334
RCV000364031
RCV000733377
ClinVar Variation:
300083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001333369.1:p.Asp425Ala
CA5496358
NM_001346440.2:c.1274A>C