ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645443582
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000047694
RCV000130395
RCV000485811
RCV000586501
RCV000764123
RCV000768616
RCV003996476
ClinVar Variation:
54447
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Pro684Ser
CA001361
NM_007300.4:c.2050C>T