ClinGen Allele Registry
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Canonical Allele Identifier:
PA157721
Gene: BRIP1
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000120405
RCV000129172
RCV000410168
RCV000411236
RCV000512967
RCV000990031
RCV001082598
RCV001355393
RCV001798383
ClinVar Variation:
133761
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_114432.2:p.Arg173Cys
CA157719
NM_032043.3:c.517C>T