ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573058196
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
481560
ClinVar RCV Id:
RCV000563793
RCV001359184
RCV003313106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Leu1813Ile
CA387785511
NM_000059.4:c.5437C>A