ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499292612
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1052626
ClinVar RCV Id:
RCV001360846
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Ala599Ser
CA400480232
NM_032043.3:c.1795G>T