ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056804
Gene: BRCA2
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar RCV:
RCV000568464
RCV001858265
ClinVar Variation:
483019
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Glu1550Ala
CA387782183
NM_000059.4:c.4649A>C