ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829698586
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000484935
RCV001024239
RCV001063794
RCV001077564
ClinVar Variation:
419732
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1797Pro
CA055255
NM_007297.4:c.5390T>C