ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA268300
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55349
ClinVar RCV Id:
RCV000048730
RCV000112457
RCV000212190
RCV000509707
RCV003150941
RCV004554684
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Met1663Lys
CA003140
NM_007294.4:c.4988T>A