ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA169961
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
142988
ClinVar RCV Id:
RCV000132500
RCV001076053
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1805Tyr
CA003578
NM_007294.4:c.5413C>T