ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579983288
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
-1.1487473416
Score
-2.1986134552
Score
-1.4478365075
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001072247
RCV001862475
ClinVar Variation:
864945
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Arg1835Gly
CA10590305
NM_007294.4:c.5503C>G