ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579757745
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.5020972038
Score
0.5520342905
Score
0.6699993066
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001076133
ClinVar Variation:
867444
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1727Glu
CA10591186
NM_007294.4:c.5179A>G