ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825045610
Gene: 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_000114.3:p.Pro148Ser
CA7041148
NM_000123.4:c.442C>T