ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA197599
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
54297
ClinVar RCV Id:
RCV000047529
RCV000111648
RCV000167144
RCV000587950
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Ala524Val
CA001052
NM_007294.4:c.1571C>T