ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697614
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000112604
RCV000509995
RCV000588744
RCV001528204
ClinVar Variation:
55510
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu1717Pro
CA003449
NM_007297.4:c.5150T>C