ClinGen Allele Registry
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Canonical Allele Identifier:
PA117040
Gene: BRIP1
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000005002
RCV000116124
RCV000199377
RCV000200979
RCV000409748
RCV000410864
RCV000587908
RCV000778130
RCV000990044
RCV001090025
RCV003149563
ClinVar Variation:
4736
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Pro47Ala
CA117038
NM_032043.3:c.139C>G