ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2573056995
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
230662
ClinVar RCV Id:
RCV000221215
RCV001327561
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Glu1250Lys
CA10579588
NM_000059.4:c.3748G>A