ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825045953
Gene: ERCC5
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000116992
RCV000613326
RCV001657728
RCV001719862
ClinVar Variation:
129011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000114.3:p.Asp1104His
CA152768
NM_000123.4:c.3310G>C