ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829697419
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55482
ClinVar RCV Id:
RCV000112580
RCV000567938
RCV001378200
RCV001811343
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Arg1704Pro
CA003392
NM_007297.4:c.5111G>C