ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139724949
Gene: HR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_060881.2:p.Pro785Leu
CA4662142
NM_018411.4:c.2354C>T