ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829687478
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55690
ClinVar RCV Id:
RCV000112782
RCV002247447
RCV001853030
RCV002390199
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Ala206Thr
CA003852
NM_007297.4:c.616G>A