ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579757844
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.4400161617
Score
-0.6753222212
Score
-0.7034262011
Linked Data - NCBI & NCI
ClinVar Allele:
813651
ClinVar RCV:
RCV001023929
RCV001077186
RCV003530138
ClinVar Variation:
825652
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met1775Thr
CA10590903
NM_007294.4:c.5324T>C