ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2573059626
Gene: BRCA2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
187129
ClinVar RCV Id:
RCV000166823
RCV000546053
RCV001582657
RCV002492673
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000050.3:p.Ser744Leu
CA014700
NM_000059.4:c.2231C>T