ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA164547
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000048732
RCV000083214
RCV000129500
RCV000420335
RCV001080706
ClinVar Variation:
55350
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Val1665Met
CA003143
NM_007294.4:c.4993G>A