ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829710740
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
240822
ClinVar RCV Id:
RCV000230445
RCV001072911
RCV002347900
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Val1830Ile
CA10583546
NM_007300.4:c.5488G>A