ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697710
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048926
RCV000077614
RCV000496809
RCV000509679
RCV001770069
ClinVar Variation:
55522
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1726Ile
CA003471
NM_007297.4:c.5177C>T