ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA240811
Gene: ERCC6
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000175123
RCV000270778
RCV000328199
RCV000363004
RCV004537373
ClinVar Variation:
194695
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000115.1:p.Ile1021Val
CA240809
NM_000124.4:c.3061A>G