ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829689746
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000166298
RCV000167785
RCV000656786
RCV000662632
RCV002483062
ClinVar Variation:
54334
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu528Lys
CA001127
NM_007297.4:c.1582G>A