ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829686753
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54614
ClinVar RCV Id:
RCV000112151
RCV000203628
RCV000223406
RCV000590264
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Leu40Val
CA001710
NM_007297.4:c.118T>G