ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829721111
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2050082
ClinVar RCV Id:
RCV002914339
RCV003157300
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Gly1048Cys
CA10595696
NM_007300.4:c.3142G>T