ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573056501
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar RCV:
RCV000575188
RCV001563452
RCV001858267
ClinVar Variation:
483028
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Cys717Gly
CA387770180
NM_000059.4:c.2149T>G