ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA100224
Gene: HR
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_005135.2:p.Val1136Asp
CA210693
NM_005144.5:c.3407T>A