ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA328029
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0
Score
-0.0538086016
Linked Data - NCBI & NCI
ClinVar Allele:
70300
ClinVar RCV:
RCV000049055
RCV000579547
RCV000662383
RCV000759562
RCV003607226
ClinVar Variation:
55633
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ser186Ala
CA003723
NM_007294.4:c.556T>G