ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829691022
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
3075765
ClinVar RCV Id:
RCV004018083
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Glu718Lys
CA10597416
NM_007297.4:c.2152G>A