ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829710030
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
17695
ClinVar RCV Id:
RCV000019265
RCV000496817
RCV001526335
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Met1796Lys
CA003476
NM_007300.4:c.5387T>A