ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829707434
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
988532
ClinVar RCV Id:
RCV001269943
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Phe591_Val592del
CA1139665573
NM_007298.3:c.1772_1777del