ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829711040
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000160011
RCV001024157
RCV001077981
RCV002053917
ClinVar Variation:
182170
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gln1847Leu
CA003640
NM_007300.4:c.5540A>T