ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829695336
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55288
ClinVar RCV Id:
RCV000112399
RCV001346129
RCV002336185
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Thr1550Ala
CA003023
NM_007297.4:c.4648A>G