ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573055590
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
571569
ClinVar RCV Id:
RCV000692746
RCV003459689
RCV003478418
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ala248Val
CA387760072
NM_000059.4:c.743C>T