ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829708252
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55364
ClinVar RCV Id:
RCV000048749
RCV000112475
RCV000163024
RCV000212192
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Thr1706Ala
CA003174
NM_007300.4:c.5116A>G