ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573055701
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
409528
ClinVar RCV Id:
RCV000482169
RCV000468157
RCV002323727
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ala1052Val
CA16613944
NM_000059.4:c.3155C>T