ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826273340
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000018045
RCV001844013
RCV002513091
ClinVar Variation:
16577
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Ala1328Thr
CA257537
NM_001204425.2:c.3982G>A