ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139724771
Gene: HR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060881.2:p.Glu540Lys
CA4662397
NM_018411.4:c.1618G>A