ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA915993174
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048568
RCV000112337
RCV000566435
RCV000588631
ClinVar Variation:
55208
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009230.2:p.Glu390Lys
CA002867
NM_007299.4:c.1168G>A