ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573058334
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
51503
ClinVar RCV Id:
RCV000044240
RCV000113205
RCV000165157
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Lys1226Ile
CA018539
NM_000059.4:c.3677A>T