ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829707078
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1500242
ClinVar RCV Id:
RCV002013377
RCV003585186
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009231.2:p.Ala1632Ser
CA10591858
NM_007300.4:c.4894G>T