ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829695620
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000034755
RCV000410023
RCV000509803
RCV000769712
RCV001071216
ClinVar Variation:
41829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu1588Lys
CA003072
NM_007297.4:c.4762G>A