ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829690845
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_009228.2:p.Val693Leu
CA001488
NM_007297.4:c.2077G>C
CA001489
NM_007297.4:c.2077G>T