ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573060122
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
421349
ClinVar RCV Id:
RCV000482796
RCV003157584
RCV003644992
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Val1447Ile
CA16619706
NM_000059.4:c.4339G>A