ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060260
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000083123
RCV000240684
RCV000510133
RCV000763893
RCV001194410
RCV001354612
RCV001852947
RCV002250519
RCV003156222
ClinVar Variation:
52019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val2050Ile
CA023698
NM_000059.4:c.6148G>A