ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA915997680
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54505
ClinVar RCV Id:
RCV000047765
RCV000111798
RCV000220800
RCV001811336
ClinVar Variation Id:
185481
ClinVar RCV Id:
RCV000164916
RCV000539119
RCV000662700
RCV001328454
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val740Leu
CA001488
NM_007300.4:c.2218G>C
CA001489
NM_007300.4:c.2218G>T