ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829697945
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
219775
ClinVar RCV Id:
RCV000206333
RCV001076848
RCV002258829
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009228.2:p.Val1744Ala
CA350379
NM_007297.4:c.5231T>C