ClinGen Allele Registry
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Canonical Allele Identifier:
PA915995538
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55688
ClinVar RCV Id:
RCV000083225
RCV000129256
RCV000587638
RCV000735448
RCV001319342
RCV003477457
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Arg252Cys
CA003848
NM_007300.4:c.754C>T