ClinGen Allele Registry
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Canonical Allele Identifier:
PA2573067425
Gene: BIVM-ERCC5
HGNC
NCBI
Linked Data
ClinVar Variation Id:
310913
ClinVar RCV Id:
RCV000264358
RCV001294161
RCV002256194
RCV002520847
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001191354.2:p.Pro602Ser
CA7041148
NM_001204425.2:c.1804C>T