ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573067429
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
134179
ClinVar RCV Id:
RCV000120852
RCV000903966
RCV001112453
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Pro652Thr
CA159018
NM_001204425.2:c.1954C>A