ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA337217
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
216674
ClinVar RCV Id:
RCV000197445
RCV001072597
RCV001190128
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009225.1:p.Asp1757His
CA337215
NM_007294.4:c.5269G>C