ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645452250
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2956752391
Score
-0.0638841886
Score
0.5856228203
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000480732
RCV001076132
ClinVar Variation:
418072
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1727Gln
CA10591187
NM_007294.4:c.5179A>C