ClinGen Allele Registry
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Canonical Allele Identifier:
PA2579758029
Gene: BRCA1
HGNC
NCBI
Linked Data - Variant Effect Evidence
MaveDb:
Score
0.2764060412
Score
0.9516503068
Score
-0.1552192881
Linked Data - NCBI & NCI
ClinVar RCV:
RCV001076056
ClinVar Variation:
867379
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.His1805Leu
CA10590633
NM_007294.4:c.5414A>T