ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829692991
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54917
ClinVar RCV Id:
RCV000048233
RCV000112118
RCV000217356
RCV000586582
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ser1140Asn
CA002275
NM_007297.4:c.3419G>A