ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829708048
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
482928
ClinVar RCV Id:
RCV000573938
RCV001076254
RCV003645046
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1696Ala
CA10591468
NM_007300.4:c.5086A>G