ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA268136
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54994
ClinVar RCV Id:
RCV000048320
RCV000112174
RCV000212176
RCV000216713
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Lys1254Glu
CA002415
NM_007294.4:c.3760A>G