ClinGen Allele Registry
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Canonical Allele Identifier:
PA645452021
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.1977088013
Score
0.0759498275
Score
0.1833222911
Linked Data - NCBI & NCI
ClinVar Allele:
401980
ClinVar RCV:
RCV000469376
RCV000586375
RCV000775750
RCV001072254
ClinVar Variation:
409300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1701Met
CA10591328
NM_007294.4:c.5101C>A