ClinGen Allele Registry
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Canonical Allele Identifier:
PA266432
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-2.9572414377
Score
-2.7697760889
Score
-3.0632057282
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000077158
RCV000549475
RCV001023693
RCV001090053
RCV001547117
ClinVar Variation:
91641
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Glu1731Lys
CA003333
NM_007294.4:c.5191G>A