ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708418
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55396
ClinVar RCV Id:
RCV000048789
RCV000077595
RCV000131821
RCV000159999
RCV000191041
RCV000239322
RCV000148390
RCV000457515
RCV001357133
RCV000585864
RCV003128133
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg1720Trp
CA003234
NM_007300.4:c.5158C>T