ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA645450148
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230481
ClinVar RCV Id:
RCV000219552
RCV002518273
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Leu1133Ser
CA10580563
NM_007294.4:c.3398T>C