ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2829694348
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55147
ClinVar RCV Id:
RCV000112302
RCV001294633
RCV001022101
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Met1364Thr
CA002723
NM_007297.4:c.4091T>C